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Reflex sympathetic dystrophy.

Reflex sympathetic dystrophy is a progressive illness most often initiated by trauma to a nerve, plexus, or soft tissue. Its five components are pain, edema, autonomic dysfunction, movement disorder, and trophic changes. The illness evolves in stages that progress insidiously over time. The length of time a patient remains in a specific stage is unknown. In any stage of reflex sympathetic dystrophy, the symptom complex may be dissociated. Reflex sympathetic dystrophy occurs in one part of the body that seems to sensitize a patient so that a succeeding injury may initiate the process in the newly traumatized area. The length of time this sensitization lasts is unknown. Pain is the most disabling and the most difficult aspect of the illness to treat. At least in early stages the pain is sympathetically maintained, but with time becomes sympathetically independent. The alpha 1 adrenoreceptor appears to be the peripheral link that, when activated, sensitizes directly or indirectly C-nociceptor fibers. Dynamic mechanoallodynia is mediated by A beta low threshold mechanoreceptors, whereas static primary mechanical hyperalgesia may be mediated by sensitized C-nociceptors. A peripheral afferent C-nociceptor input appears to be necessary to alter the dorsal horn central processing mechanisms to allow for the expression of dynamic mechanoallodynia. This nociceptive barrage could be driven by the sympathetic efferent outflow or could be sympathetically independent. The response of immediate early response genes may change the neuropeptide concentration of the dorsal horn. Central sensitization mediated by excitatory amino acids, neuropeptides, and the N-methyl-D-aspartate receptor may be responsible for the severe pain seen in the later stages of the illness.

Animals↗

Cardiac sympathetic denervation from the early stage of Parkinson's disease: clinical and experimental studies with radiolabeled MIBG.

UNLABELLED: Autonomic disorder is not infrequent in patients with akinetic-rigid syndromes, including idiopathic Parkinson's disease. In the advanced stage of Parkinson's disease, abnormal blood pressure responses, such as orthostatic hypotension and abnormal circadian blood pressure rhythm, may occur. Few cases of reduced 123I-metaiodobenzylguanidine (MIBG) accumulation in the heart or limbs of Parkinson's disease patients have been reported. However, whether reduced accumulation is caused by damage to the postganglionic sympathetic nervous system or by central autonomic failure corresponding to abnormalities in blood pressure regulation is unknown. METHODS: We evaluated sympathetic denervation in 32 Parkinson's disease patients using 123I-MIBG cardiac scintigraphy and compared the findings with those for autonomic dysfunction detected by orthostatic hypotension and diurnal blood pressure variation. Cardiac 125I-MIBG accumulation was also determined in an experimental model of Parkinson's disease using mice pretreated with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). RESULTS: Cardiac 123I-MIBG accumulation 15 min after injection and 4 h after injection was markedly reduced in the Parkinson's disease patients (heart-to-mediastinum ratio: 1.58 +/- 0.37 and 1.33 +/- 0.28, respectively) compared with 7 healthy volunteers (2.42 +/- 0.27 and 2.60 +/- 0.15, respectively). This reduction was observed even at the earlier stages of physical activity or disease duration and also in patients with normal blood pressure response and variation, indicating that the marked decrease in cardiac 123I-MIBG accumulation may be a special feature of Parkinson's disease. Pretreatment with a total dose of 100 mg/kg MPTP, which is the standard dose used to destroy the dopaminergic neurons in models of Parkinson's disease, significantly reduced cardiac 125I-MIBG accumulation in C57BL/6 mice. Interestingly, the reduction of 125I-MIBG accumulation was still significant when MPTP was reduced to 5 mg/kg. These findings indicated that the postganglionic sympathetic nerves may be damaged by MPTP or unknown toxic substrates in experimental or human Parkinson's disease during the early stage, because dopaminergic neurons and sympathetic nerves are substantially similar in their plasma membrane transporters. CONCLUSION: Cardiac scintigraphy with 123I-MIBG may be used as a new imaging approach in the diagnosis and characterization of akinetic-rigid syndromes, especially Parkinson's disease.

1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine↗

Heart rate variability at rest and during exercise in persons with Down syndrome.

OBJECTIVES: To determine whether autonomic dysfunction explains chronotropic incompetence observed in persons with Down syndrome (DS) and to measure heart rate variability (HRV) at rest and during exercise in persons with mental retardation with and without DS. DESIGN: Comparative study. SETTING: University exercise science laboratory. PARTICIPANTS: Thirty-one subjects with mental retardation (age, 20.2 y) with DS (n=16; 10 men, 6 women) and without DS (n=15; 8 men, 7 women). INTERVENTIONS: Not applicable. Main outcome measures HRV was determined at rest and at 2 steady-state exercise intensities on the treadmill in both time (standard deviation of the R-R interval, percentage of R-R intervals deviating by more than 50 ms from the previous R-R interval [deviation >50], square root of the mean squared differences of successive differences) and frequency (low-frequency power [LF]), high-frequency power [HF], the LF/HF ratio) domains. RESULTS: The DS group demonstrated a statistically lower peak heart rate (161 beats/min vs 178 beats/min, P<.05), and peak oxygen consumption (27.4 mL.kg(-1).min(-1) vs 34.3 mL. kg(-1).min(-1), P<.05) than did the group with mental retardation without DS. At rest, all time domain measures of HRV and absolute HF power were significantly higher in the DS group (P<.05). Yet, LF power and LF/HF values did not differ between groups. All HRV variables decreased significantly at both exercise intensities, with no differences between groups during exercise (P<.05). CONCLUSIONS: People with DS have greater parasympathetic activity at rest, but group differences disappear with the onset of exercise, which suggests that other variables are responsible for chronotropic incompetence in persons with DS.

Adult↗

Development and validation of blood-based diagnostic biomarkers for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) using EpiSwitch&#xae; 3-dimensional genomic regulatory immuno-genetic profiling.

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating, multifactorial disorder characterised by profound fatigue, post-exertional malaise, cognitive impairments, and autonomic dysfunction. Despite its significant impact on quality of life, ME/CFS lacks definitive diagnostic biomarkers, complicating diagnosis and management. Recent evidence highlights potential blood tests for ME/CFS biomarkers in immunological, genetic, metabolic, and bioenergetic domains. Chromosome conformations (CCs) are potent epigenetic regulators of gene expression and cross-tissue exosome signalling. We have previously developed an epigenetic assay, EpiSwitch&#xae;, that employs an algorithm-based CCs analysis. Using EpiSwitch&#xae; technology, we have shown the presence of disease-specific CCs in peripheral blood mononuclear cells (PBMCs) of patients with amyotrophic lateral sclerosis (ALS), rheumatoid arthritis (RA), prostate and colorectal cancers, diffuse Large B-cell lymphoma and severe COVID-19. In a recent paper, we have identified a profile of systemic chromosome conformations in cancer patients reflective of the predisposition to respond to immune checkpoint inhibitors, PD-1/PD-L1 antagonists, with 85% accuracy. In this Retrospective case/control study (EPI-ME, Epigenetic Profiling Investigation in Myalgic Encephalomyelitis), we used whole blood samples retrospectively collected from n&#x2009;=&#x2009;47 patients with severe ME/CFS and n&#x2009;=&#x2009;61 age-matched healthy control patients to perform whole-genome 3D DNA screening for CCs correlating to ME/CFS diagnosis. We identified a 200-marker model for ME/CFS diagnosis (Episwitch&#xae;CFS test). First testing on the retrospective independent validation cohort demonstrated a strong systemic ME/CFS signal with a sensitivity of 92% and a specificity of 98%.Pathways analysis revealed several likely contributors to the pathology of ME/CFS, including interleukins, TNF&#x3b1;, neuroinflammatory pathways, toll-like receptor signalling and JAK/STAT. Comparison with pathways involved in the action of Rituximab and glatiramer acetate (Copaxone) (therapies with potential in ME/CFS treatment) identified IL2 as a shared pathway with clear patient clustering, indicating a possibility of a potential responder group for targeted treatment.

Humans↗

Amyloidotic polyneuropathy in a Jewish family. Evidence for the genetic heterogeneity of the lower limb familial amyloidotic neuropathies.

The first instance of familial amyloidotic polyneuropathy affecting a Jewish family is reported. Vitreous opacities were its presenting feature in the father at age 30 and the son at 25. Severe autonomic dysfunction and progressive peripheral neuropathy affecting initially the lower extremities soon followed. Death, suicidal in the son, occurred after seven and four years of illness. Their amyloid contained three proteins-an entire variant monomer of prealbumin, glycine replacing threonine as residue 49, and both products of its cleavage at the point of substitution. Lower limb familial amyloidotic polyneuropathy has been recorded in many families in Portugal, Sweden and Japan and occasionally in families of various ethnic stocks. This ethnic diversity prompts consideration of genetic heterogeneity. Differentiation on a genetic basis is forestalled since all pedigrees are compatible with autosomal dominant transmission and clinical data are marred by observer variance, even regarding vitreous opacities. Notwithstanding, an isolated British family is unique in the frequent occurrence of intractable peptic ulceration, cataracts, deafness and renal disease not attributable to amyloidosis and a striking predominance of males afflicted. Biochemically, monomeric prealbumin has been demonstrated by electrophoretic and immunologic techniques as the single protein constituent of amyloids isolated from Portuguese, Japanese and Swedish patients. The variant prealbumin of Japanese amyloid is characterised by methionine replacing valine as residue 30 and is identical to that found in plasma (but not as yet in amyloid) of affected Swedes. These limited data suggest that: (a) derivation of their amyloids from prealbumin is the biochemical common denominator of lower limb familial amyloidotic neuropathies regardless of the ethnic derivation of the afflicted; (b) to the extent that ethnic diversity reflects genetic heterogeneity, this will be demonstrable in the amyloid (and hopefully in the plasma) of the afflicted as entity-specific variant prealbumin monomers distinguished by different single amino acid substitutions; (c) on clinical and biochemical grounds, lower limb familial amyloidotic neuropathies include at least three genetic entities. In the upper limb and facial forms of familial amyloidotic polyneuropathy first recorded in Swiss and Finns respectively, the differences in their patterns of neurological disease and ocular lesions could be the result of their amyloids deriving from proteins other than prealbumin.

Adult↗

Effects of aging on the intrinsic membrane properties of medial NTS neurons of Fischer-344 rats.

1. Recent studies have demonstrated that the arterial baroreflex is imparied with aging and have implicated central components of the baroreflex arc in this autonomic dysfunction. Neurons in the medial portion of the nucleus tractus solitarius (mNTS) receive a major input from the arterial baroreceptors. The present study was undertaken to characterize the intrinsic membrane properties of mNTS neurons in young rats and to test the hypothesis that these properties are altered with aging. An in vitro brain stem slice preparation was used to record intracellularly from mNTS neurons; passive membrane properties, action potential characteristics, and repetitive firing properties were examined and compared. 2. Neurons in the mNTS of young (3-5 mo old) Fischer-344 rats (F-344; n = 35) had a resting membrane potential of -57 +/- 6.9 mV (mean +/- SD), a membrane time constant of 18 +/- 9.0 ms, and an input resistance of 110 +/- 60 m omega. Action potential amplitude was 81 +/- 7.5 mV with a duration at half-height of 0.83 +/- 0.15 ms. The spontaneous firing rate in 24 cells was 4.3 +/- 2.9 Hz. The amplitude and duration of the action potential afterhyperpolarization (AHP) were 6.6 +/- 3.0 mV and 64 +/- 34 ms, respectively. All neurons expressed spike frequency adaptation, action potential AHP, and posttetanic hyperpolarization. Delayed excitation and postinhibitory rebound were present in 34 and 14% of neurons tested, respectively. Neurons from adult (10-12 mo old) F-344 rats (n = 34) were similar to the young F-344 rats with respect to all of these variables. 3. Neurons from aged (21-24 mo old) F-344 (n = 32) were similar to those from young and adult rats, but there were two potentially important differences: the mean input resistance of the aged neurons was higher (170 +/- 150 M omega), with a larger proportion (46% of aged neurons vs. 20% of young neurons and 21% of adult neurons) having input resistances > 150 M omega; and there was a tendency for a smaller percentage of aged neurons (16% of aged neurons vs. 34% of young neurons and 29% of adult neurons) to express delayed excitation. 4. The potential significance of a high input resistance was tested by comparing the steady-state current-voltage (I-V) relationships and the frequency-current (f-I) relationships among low-resistance (1-100 M omega), medium-resistance (101-200 M omega).(ABSTRACT TRUNCATED AT 400 WORDS)

Aging↗

The neurology and enterology of equine grass sickness: a review of basic mechanisms.

Autonomic dysfunction constitutes a prominent clinical feature of equine grass sickness (EGS). Significant injury to the nervous control of the alimentary system is life threatening, partly because of dysphagia but also because of the failure of the unique regulatory mechanisms in equine digestion involving water and electrolyte balance. The neuropathology also indicates the presence of a somatic polyneuropathy. The morphological features of EGS are similar to those of excitotoxic neuronal degeneration, which resembles neuronal apoptosis. It is difficult to ascertain from published accounts the degree of damage to central neurones: the distribution is well documented and selective but the proportion of damage is poorly quantified. If lesions involve a significant number of regulatory neurones they should produce functional deficits. Any clinical assessment of horses, especially those with chronic EGS, should include a thorough neurological examination. Although this will not necessarily improve the outcome of the case, it may enable the rational selection of animals with a reasonable prognosis for recovery which is partly determined by the extent of CNS lesions. The evidence supports the following pathogenesis. There is an initial lesion in the enteric nervous system of susceptible horses. In the acute form of EGS, massive enteric neuronal damage occurs first functionally, then structurally leading to generalized alimentary smooth muscle atony, enhanced secretions and altered fluid fluxes. Severe distension of the stomach and small intestines rapidly develops, which augments the intestinal ileus by intersegmental inhibitory reflexes and causes colic and dehydration. In subacute cases, failure of intestinal bicarbonate buffer together with alimentary stasis rapidly reduces caecal-colonic fermentation. Thus the osmolality of large intestinal digesta reduces and water travels out of the bowel along osmotic gradients. Water returns to the circulation, but is eventually lost in the gastric and small intestinal secretions. The observation that pathological lesions may not be seen in the prevertebral ganglia within the first few days of acute cases supports the view that a functional deficit precedes structural lesions which may be secondary to a retrograde degeneration. It is therefore possible to resolve the observations that less damage may be seen in prevertebral ganglia and elsewhere in peracute and acute cases with the more common finding that greater neuronal damage is present in acute than in chronic cases. These different observations are probably time dependent. Chronic EGS occurs when there is less initial enteric nerve damage which may lead to less secondary prevertebral ganglionic pathology, and more time for functional and structural compensatory mechanisms to develop. Denervation hypersensitivity develops at target sites both in the gut and in peripheral somatic nerves which may account, in part, for the clinical signs of patchy sweating and muscle tremors. Raised circulating adrenaline levels may also account for generalized sweating, may contribute to gastrointestinal atony and may affect pacemakers at the pelvic flexure. Many of the features of EGS make worthwhile the re-investigation of Clostridium botulinum Group III toxins, which are known to prevent vesicular exocytosis, stimulate neurosecretion, produce neuronal chromatolysis and inhibit neutrophil migration. Also, evidence from other species suggests that increased nitrergic neuronal activity can account for many of the clinical signs of EGS, namely dysphagia, generalized ileus, gastric dilatation, sweating, peripheral vasodilatation, tachycardia, salivary hypersecretion, muscle wastage and cachexia.

Animals↗

Guanidine in type B botulism.

On two occasions, guanidine produced clinical and electrophysiological improvement in a 54-year-old man with botulism, type B. However, guanidine was ineffective for autonomic dysfunction. There were no intolerable side effects. Our experience showed that guanidine is also effective in botulism, type B, as adjunctive therapy.

Botulism↗

Diabetes mellitus, the renin-angiotensin-aldosterone system, and the heart.

With diabetes mellitus reaching epidemic proportions, mainly secondary to obesity, the impact of cardiovascular disease due to this combination makes it a dominant public health problem during the first quarter of the 21st century. The complex interaction that results in diabetic heart disease is created by overlapping mechanisms. There is a propensity to develop premature, diffuse atherosclerotic coronary disease, which is associated with adverse short- and long-term morbidity and mortality. There are structural and functional abnormalities of the microvasculature, autonomic dysfunction, and intrinsic failure of myocardial contraction (so-called diabetic cardiomyopathy). These changes are amplified by arterial hypertension and kidney disease. In this review, we consider the role of the renin-angiotensin-aldosterone system and how it is a crucial driver of most of the pathophysiologic mechanisms behind diabetic heart disease and why in the past 5 years blocking this system in diabetic patients has emerged as a critical therapeutic intervention.

Clinical Trials as Topic↗

Painful diabetic neuropathy. A morphometric study.

We investigated three diabetic patients whose neuropathy was characterized by pain, hypesthesia, and autonomic dysfunction, with preservation of epicritic sensation and muscle-stretch reflexes. Two sural nerves were studied qualitatively and quantitatively, using teased fiber, light, and electron microscopical techniques. The most striking alterations were encountered in unmyelinated and small myelinated fibers. Unmyelinated nerve fiber sprouting was evident. The clinical features, which suggested small-fiber involvement, correlated with the pathological findings in biopsied cutaneous nerve. The balance of evidence indicates that the painful small-fiber neuropathy of diabetes is an axonal disorder.

Adult↗

Delayed encephalopathy after strangling.

An 11-year-old boy who had been the victim of a strangling attempt was asymptomatic for one week whereupon involuntary movements involving the trunk and limbs developed, along with repetitive episodes of opisthotonos and autonomic dysfunction. Meanwhile, he remained alert and appeared to be mentally intact. An electroencephalogram was normal. He died 13 weeks after the onset of the neurological disorder. The neuropathological examination showed cavitating lesions in the caudate nucleus, putamen, and globus pallidus bilaterally, with sparing of the white matter. The delayed onset of a progressively evolving neurological disorder has been noted in various forms of hypoxicischemic insult, including previously reported cases of strangling, but its occurrence cannot be predicted from the preceding clinical state or course. In the cases in which abnormal movements have been predominant, the pathological findings have been similar despite diversity in the preceding circumstances. We suggest the underlying metabolic disorder common to these cases may be lactic acidosis, and that they should be studied for evidence of a biochemical defect.

Brain Diseases↗

Iatrogenic causalgia. Classification, clinical findings, and legal ramifications.

Eleven patients had causalgia that resulted from surgical procedures or improperly placed injections. It is the intense, unremitting, burning quality of the pain that distinguishes causalgia from other nerve injury sequelae. The mode of injury, as well as the symptoms and signs and their duration, suggests that the recent tendency to divide causalgia into "major" and "minor" forms on the basis of its occurrence during war or peace, with or without autonomic dysfunction, is improper. Most of these patients have sought legal redress. All cases for which the legal issues are complete have been settled in favor of the plaintiffs.

Adult↗

Motor neuron disease with parkinsonism.

OBJECTIVE: To report clinical characteristics of patients with combined features of parkinsonism and motor neuron disease (MND). DESIGN: Medical chart review. SETTING: University medical center. PATIENTS: Thirteen patients, identified by computer-assisted search, who had diagnoses of both parkinsonism and MND. RESULTS: Median age was 68 years. There were 7 men and 6 women. All had clinical and electrodiagnostic evidence of both upper and lower motor neuron degeneration. One or more clinical manifestations of parkinsonism were observed in all patients either before the diagnosis of MND (n = 2), at the time of initial evaluation (n = 10), or after the diagnosis of MND (n = 1). The median time from symptom onset to presentation was 18 months. Improvement was seen in 5 of the 11 patients treated with levodopa. Dementia and autonomic dysfunction were absent in all patients. Postmortem neuropathological evaluation, available in 1 patient, demonstrated degeneration of the substantia nigra with Lewy bodies, mild pallor of the medullary pyramids, and neurogenic atrophy of the skeletal muscle. CONCLUSION: The onset of MND and parkinsonism within a relatively short period in most of our patients favors a common pathogenic mechanism over coincidental occurrence of 2 unrelated diseases. In patients with MND, it is important to recognize signs of parkinsonism that levodopa might alleviate.

Aged↗

Prolonged sympathetic reflex latency on skin nerves in sporadic cerebellar degeneration.

BACKGROUND: Many physiological or pharmacological evaluations of autonomic function have been performed in patients with various types of cerebellar degeneration (CD). Few studies have been done, however, using neurographic recordings in patients with CD, especially of sudomotor or vasoconstrictor nerves. OBJECTIVE: To confirm the clinical importance of sympathetic reflex latencies on the skin nerves of patients with various types of CD. DESIGN AND SETTING: Case-comparison study at an academic center. PARTICIPANTS: We studied 12 patients who had sporadic CD (cerebellar cortical atrophy, olivopontocerebellar atrophy, and Shy-Drager syndrome) and 15 healthy volunteers as controls. METHODS: Skin sympathetic nerve activity (SSNA), sympathetic skin response, and skin vasomotor reflex were simultaneously recorded using randomly administered electrical stimuli. RESULTS: In controls, SSNA reflex latency ranged from 640 to 864 milliseconds. Patients with cerebellar cortical atrophy exhibited slight but significant (P<.01) prolongation of reflex latency to the onset of reflex bursts. In patients with olivopontocerebellar atrophy, latency to the onset and the peak of reflex bursts was significantly prolonged (P<.001). Patients with Shy-Drager syndrome had no SSNA, sympathetic skin response, or skin vasomotor reflex, even with supramaximal electrical stimuli. CONCLUSIONS: Prolonged reflex latency or the absence of reflex bursts on SSNA can be observed in patients with CD with various forms of autonomic dysfunction. The measurement of SSNA reflex latency may be a useful method of evaluating sympathetic function, including the central pathway.

Aged↗

Parkinsonism and neck extensor myopathy: a new syndrome or coincidental findings?

BACKGROUND: Dropped head in parkinsonism has been attributed to dystonia or unbalanced muscle rigidity. To our knowledge, isolated neck extensor myopathy with parkinsonism has been described in only one patient. OBJECTIVES: To assess the occurrence of neck extension weakness resulting in dropped head in patients with parkinsonism and to explore whether the head drop might be the consequence of neck extensor myopathy. PATIENTS AND METHODS: All patients who were evaluated because of parkinsonism in the Department of Neurology in our hospital between January 1, 1997, and December 31, 1999, and were found to have both parkinsonism and neck extension weakness resulting in head drop were studied. The patients underwent clinical examination, blood tests including the levels of creatine kinase and myoglobin and neurophysiological evaluation with needle electromyography and autonomic tests. Open biopsy on a neck muscle was performed in the patients who could cooperate. RESULTS: Of 459 patients evaluated because of parkinsonism, 7 were found to have neck extensor weakness resulting in head drop. Needle electromyography revealed myopathic changes in all 7 patients. Muscle biopsy, which was performed in 5 patients, disclosed myopathic changes in all 5 patients. Electron microscopy revealed mitochondrial abnormalities in 2 of these 7 patients. Three of the patients had concomitant neck rigidity that could contribute to the neck position. All 7 patients had autonomic dysfunction and 6 responded poorly to levodopa therapy, making a diagnosis of multiple system atrophy probable. CONCLUSION: Parkinsonism may be associated with isolated neck extensor myopathy resulting in dropped head, and this condition should be suggestive of multiple system atrophy.

Aged↗

Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form.

BACKGROUND: Type I (transthyretin Met30) familial amyloid polyneuropathy (FAP TTR Met30) occurs in 2 endemic foci in Japan. We have also reported late-onset Japanese cases unrelated to an endemic focus and showing distinctive clinicopathologic features. OBJECTIVE: To compare clinical and geographic features of FAP TTR Met30 between patients with onset before and after 50 years of age. DESIGN AND SETTING: Clinical information was obtained through a nationwide survey by the Study Group for Hereditary Neuropathy in Japan. RESULTS: Families with early-onset disease in this study numbered 82, and those with late onset, 59. In families with late onset, neuropathy showed male preponderance, low penetrance, little relationship to endemic foci, sensorimotor symptoms beginning distally in the lower extremities with disturbance of both superficial and deep sensation, and relatively mild autonomic symptoms. Families with early onset showed higher penetrance, concentration in endemic foci, predominant loss of superficial sensation, severe autonomic dysfunction, and atrioventricular nodal block requiring pacemaker implantation. CONCLUSIONS: This study confirmed differences in clinical and geographic features between early- and late-onset FAP TTR Met30. Late-onset cases may be more prevalent and widespread than previously believed.

Adult↗

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS), a novel disorder in male carriers of premutations of the fragile X mental retardation 1 gene (FMR1), was recently described. The clinical presentation of FXTAS most closely resembles multiple system atrophy (MSA) because both disorders manifest with cerebellar ataxia, intention tremor, autonomic dysfunction, and parkinsonism. It has been proposed that FXTAS might be a common neurodegenerative disorder. OBJECTIVE: To determine whether FXTAS accounts for patients currently diagnosed as having MSA or a related clinical diagnosis. DESIGN: Patients with MSA or related phenotypes were examined by experienced movement disorders neurologists, and DNA samples were obtained for genetic study. SETTING: Salpêtrière Hospital. PATIENTS: Seventy-seven patients clinically diagnosed as having MSA, 19 as having olivopontocerebellar atrophy, and 27 as having cerebellar ataxia. MAIN OUTCOME MEASURE: The number of FMR1 repeats was determined in all patients by polymerase chain reaction. Alleles above 40 CGG repeats were controlled by Southern blot analysis. RESULTS: Two patients carried FMR1 premutations of 110 and 135 repeats: a man with a familial form of cerebellar ataxia and a woman diagnosed as having MSA-cerebellar type. In addition, 9 patients (7%) carried alleles in the intermediate size range, from 41 to 53 repeats. CONCLUSIONS: We confirm the recent initial description of FXTAS in women. Our data suggest that FXTAS is rare in MSA and indicate that FXTAS might be less prevalent than proposed.

Adult↗

Pupillary and electroretinographic abnormalities in a family with neuronal intranuclear hyaline inclusion disease.

Abnormal pupillary function and a severely depressed electroretinogram were found in four members of a family with neuronal intranuclear hyaline inclusion disease, an idiopathic degenerative disorder that involves the central and peripheral nervous systems. Symptoms were limited to the gastrointestinal system and consisted principally of abdominal pain, constipation, and severe weight loss. The discovery of light-fixed pupils in the propositus led to the first antemortem diagnosis by rectal biopsy in two generations of this family. Abnormalities of gastrointestinal motility and pupillary reactions constituted the only objective evidence of autonomic dysfunction; the abnormal electroretinogram was the only evidence of central nervous system dysfunction.

Adult↗