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PubMed2005

Physical complaints in ageing persons with spinal muscular atrophy.

OBJECTIVE: While life expectancy is improving for persons with spinal muscular atrophy, new physical complaints may arise. To investigate this, we studied persons with a long duration and severe course (high functional limitations) of the disease. DESIGN: Cross-sectional descriptive study. SUBJECTS/PATIENTS: Persons with spinal muscular atrophy. METHODS: Questionnaires and structured interviews on prevalence of physical complaints and their duration. Of 190 questionnaires 99 were returned; of 23 persons (with the longest disease duration and high functional limitation level) selected for structured medical interviews 9 participated. RESULTS: Patterns common within and different between the different types of spinal muscular atrophy were identified. Of the 10 most common complaints, types 1-2 had a significantly higher prevalence of kyphoscoliosis, difficulty in coughing, joint contractures and voice/speech problems, while type 3 had a significantly higher prevalence of fatigue. No statistically significant correlation was found between the appearance of physical complaints and disease duration. However, sleeping and swallowing problems were in the 5 most common complaints with the shortest mean time of appearance. The structured interview revealed hypermobility in the hand, suffusion of the eyes, and itching as new complaints with high prevalence. CONCLUSION: There are indications that the frequency of less well-known physical complaints increases with ageing.

Adult↗

PubMed1999

Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration.

PURPOSE: In patients with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome, the pathophysiology underlying early progressive cerebellar and brainstem degeneration and severe epilepsy is unknown. Because insulin-like growth factor (IGF)-1 has been shown significantly to promote survival of cerebellar neurons, we wanted to see if the IGF system played a role in the pathogenesis of cerebellar atrophy. METHODS: We used a sensitive enzyme immunoassay kit for measuring cerebrospinal fluid (CSF) IGF-1 and insulin-like growth-binding protein (IGFBP)-3 in four groups of patients: PEHO syndrome patients (eight), PEHO-like patients (seven), age-matched controls (31), and patients with other types of cerebellar atrophy (11). RESULTS: Patients with PEHO syndrome and those with other progressive, degenerative cerebellar diseases had lower levels of CSF IGF-1 than the controls with other neurologic diseases. The CSF IGF-1 also allowed us to differentiate the "true" PEHO patients from the "PEHO-like" patients (those with similar clinical symptoms but without the typical neuroophthalmologic or neuroradiologic findings). The concentrations of IGFBP-3 did not significantly differ in any of the patient or control groups studied. CONCLUSIONS: CSF IGF-1 levels might be used as a marker of the degeneration of neurons in specific areas.

Atrophy↗

PubMed2005

The aetiology of optic atrophy in Nigerians--a general hospital clinic study.

This study aimed at reviewing cases presenting with optic atrophy at the eye clinic of the University College Hospital, Ibadan, Nigeria with a view to identifying some of the diagnostic problems. The study was a retrospective review of 100 cases selected by systematic random sampling method of a total of 6160 patients presenting with optic atrophy to the eye clinic over 6 years (April 1990 to March 1996). Diagnosis was based on ophthalmoscopic appearance of optic disc corroborated with visual field studies. The mean age of the patients was 40.8 years. The male to female ratio was 2:1 bilateral. Eighty percentages were bilateral, whereas 20% were unilateral. Only in 38% of cases could the cause of the optic atrophy be identified. The most frequently diagnosed were cranio-orbital neoplasms (8%), those referable to trauma (8%), hydrocephalus (7%), retinitis pigmentosa (3%) and post infectious (2%). Other causes include toxins, congenital, seizure disorders, birth asphyxia and papilloedema. In 62% of cases, the aetiology cannot be satisfactorily elicited. Some suggestions have been made to overcome some of these diagnostic problems.

Adult↗

PubMed1994

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies are divided into severe (type I) and mild forms (types II and III). By a combination of genetic and physical mapping, a yeast artificial chromosome contig of the 5q13 region spanning the disease locus was constructed that showed the presence of low copy repeats in this region. Allele segregation was analyzed at the closest genetic loci detected by markers C212 and C272 in 201 SMA families. Inherited and de novo deletions were observed in nine unrelated SMA patients. Moreover, deletions were strongly suggested in at least 18 percent of SMA type I patients by the observation of marked heterozygosity deficiency for the loci studied. These results indicate that deletion events are statistically associated with the severe form of spinal muscular atrophy.

Alleles↗

PubMed1997

Survival of patients with pathologically proven multiple system atrophy: a meta-analysis.

A systematic review of the neurologic literature identified 433 cases of pathologically proven multiple system atrophy over a 100-year period. Earlier case reports included patients younger in age with more frequent cerebellar involvement. Mean age of onset was 54.2 years (range 31 to 78) and survival was 6.2 years (range 0.5 to 24). Survival analysis showed a secular trend from a median duration of 4.9 years for publications between 1887 and 1970 to 6.8 years between 1991 and 1994. Older age of onset was associated with shorter survival; the hazard ratio for patients with onset after 60 years was 1.8 (95% CI 1.4 to 2.3) compared with patients between 31 and 49 years. Cerebellar features were associated with marginally increased survival (6.1 years versus 5.4 years; p = 0.04). There were no difference in survival according to gender, parkinsonian, or pyramidal features or whether the patient was classified as striatonigral degeneration or olivopontocerebellar atrophy type. These results demonstrate the poor prognosis for patients with multiple system atrophy but may be biased toward the worst cases. Future research needs to recruit more representative samples.

Adult↗

PubMed2003

[A patient with multiple system atrophy presenting prolonged levodopa-responsive parkinsonism and off-dystonia of the trunk].

A 46-year-old man had a 7-year history of dopa-responsive parkinsonism. Four years after starting levodopa, he had typical motor complications such as wearing-off and peak dose as well as off-period dystonia of his trunk. Brain MRI showed marked atrophy of the brainstem and cerebellum, and the cross sign was present in the pontine base. There was neither abnormal signal intensity nor atrophy in the basal ganglia. Then, he was suspected as having multiple system atrophy (MSA). It is not easy to differentiate MSA from Parkinson diseases, particularly when the patient shows good response to levodopa and motor complications like those seen in Parkinson's disease. If the striatal pathology was not severe and nigral degeneration was prominent, presynaptic parkinsonism might occur in MSA, and putaminal preservation might account for good response to levodopa therapy. In patients with MSA, disproportionate antecollis is common before levodopa treatment, and levodopa induced off-dystonia of his trunk is very rare.

Brain↗

PubMedDate not supplied

[Spinal muscular atrophy associated with olivopontocerebellar hypoplasia. A case report].

INTRODUCTION: Spinal muscular atrophy is a frequent neurodegenerative disease in infancy. Nevertheless, its association with olivopontocerebellar hypoplasia is rare. CASE REPORT: We describe a case displaying clinical symptoms that included respiratory failure, dysmorphias, hypotonia, deep tendon areflexia and respiratory complications, like the cases described in the literature. In the genetic study it was not possible to find the motor neuron gene surviving from the infantile muscular atrophy. The neuropathological disorders found in the necropsy study were olivopontocerebellar hypoplasia with intense neuronal loss (fundamentally from Purkinje cells and from the granular layer of the cerebellum, olivary nuclei and pons), replacement gliosis and degeneration of the motor cells in the anterior horn of the spinal cord. Death occurred due to a respiratory complication in the 11th postnatal month. CONCLUSIONS: The paper describes the clinical-pathological study and the genetic study of a female patient who died at the age of 11 months after being diagnosed as presumably suffering from Werdnig-Hoffman disease. The autopsy revealed an olivopontocerebellar hypoplasia, which is a morphological trait that is not associated with the above-mentioned entity. The microscopic study revealed extensive areas of gliosis and neuronal loss. We conclude with the diagnosis of spinal muscular atrophy associated with olivopontocerebellar hypoplasia, which is a rare clinical entity with very few case reports and whose genetic defect is still unknown. We also review the extant literature related to this case.

Abnormalities, Multiple↗

PubMed2006

The progression of bone and muscle atrophy in mice hind limb with immobilization.

This study investigated the time course of changes of bone and muscle atrophy in mice with immobilization by denervation and fixation. The animals were fifty-two male C57 BL/6J mice, aged 10 weeks old. Eight mice were used as the base line, and the remaining ones were cut at the sciatic nerve of the left hind limb and fixed with a plaster cast. At week 1, 2, 3, and 4 after the operation, a cross-sectional area of the rectus femoris muscles and bone mechanical strength with a three-point bending test of the femur and tibia were measured. The time course of changes of the bone mechanical strength and of the cross-sectional area of the rectus femoris muscles between the intact and experimental limbs in each period compared with the control limbs, was determined. The bone mechanical strength of the femur, tibia, and the cross-sectional area of the rectus femoris muscles of the experimental limbs significantly decreased compared with those of the intact limbs at week 4, 3, 2 and 1 after the operation (p<0.05). Compared with the intact limbs, the bone mechanical strength and the cross-sectional area of the rectus femoris muscles of the experimental limbs declined approximately 10% and 30%, respectively, during the experiment (p<0.05). It was demonstrated that bone and muscle atrophy occurred at an early stage after immobilization by denervation and fixation, and that both types of atrophy progressed simultaneously in the present study.

Animals↗

PubMedDate not supplied

Evaluation of the lumbar spine in patients with glycogen storage disease: CT demonstration of patterns of paraspinal muscle atrophy.

CT studies of the lumbar spine were performed in 19 patients with glycogen storage disease. Nine of 10 patients with McArdle's disease and seven of nine patients with acid maltase deficiency demonstrated posterior paraspinal muscle atrophy out of proportion to their ages. In addition, the psoas muscles were spared in all 10 patients with McArdle's disease and were involved with atrophy in seven of the nine patients with acid maltase deficiency. We conclude that when patients with low back pain-or asymptomatic patients-demonstrate otherwise unexplained atrophy of the paraspinal muscles the diagnosis of glycogen storage disease should be considered. Furthermore, when the psoas muscles are spared, the specific diagnosis of McArdle's disease is suggested.

Adipose Tissue↗

PubMed1990

[Optic nerve atrophy with particular attention to perinatal damage].

We reviewed the records of children born between 1983 and 1987 reported to the Danish National Register for the Visually Impaired Children and with a diagnosis of optic atrophy. Known or presumed etiology was found in 53 of 55 children. Perinatal stress factors were found in 32 patients (58%), with prematurity, low birth-weight and perinatal asphyxia as the most common findings. 78% of the children in the perinatal damage group were boys. We found that all children with optic atrophy caused by perinatal difficulties had one or more additional handicap. The types of handicaps were cerebral palsy, epilepsy and psychomotor retardation. The importance of paying attention to the fact that multiply handicapped children may be visually impaired on account of optic atrophy is emphasized. Early diagnosis is important in order to start educational stimulation as early as possible. It is concluded that visual impairment caused by perinatal damage to some extent is preventable. The strategy for prevention should be based upon better identification of specific etiologies as well as a better understanding of the pathogenesis of infantile optic neuropathy.

Abnormalities, Multiple↗

PubMedDate not supplied

[Progressive supranuclear palsy: description of a case of early occurrence associated with muscular atrophies (author's transl)].

A case of Progressive Supranuclear Palsy (P.S.P.) of early onset (38 years) is described, with somewhat atypical features: the patient was oligophrenic, had no pseudobulbar signs, but there was some muscular atrophy, particularly of the shoulders girdle. On examination there was a slight cortical and cerebellar atrophy on the air encephalogram. Electromyography showed signs of damage to the lower motor neurone which was confirmed by muscular biopsy. In the literature a muscular atrophy in association with P.S.P. is rarely reported clinically although in some cases studied histologically there was degeneration in the nuclei of the cranial and spinal motor nerves. The present case may be an example of such widespread degeneration.

Atrophy↗

PubMed1980

Juvenile muscular atrophy localized to arms.

Twenty-four patients from India, had juvenile muscular atrophy localized to the upper extremities. The condition characteristically affects young men and is not familial. Atrophy is limited to the hand and forearm muscles, with slow progression for two to three years after which it seems to be stationary. The condition is associated with "tremor-like" movements out of proportion to the weakness. Examination of muscle biopsy specimens shows group 2 fiber atrophy. This syndrome, for which no cause has been described, is benign and self-limiting, unlike most motor neuron diseases, and is distal in upper extremities, unlike Kugelberg-Welander disease. Asymmetrical muscle wasting and preceding febrile illness in some patients suggests an atypical poliomyelitis-like viral disease.

Adolescent↗

PubMed1981

Organic mental syndrome and confusional states in Parkinson's disease. Relationship to computerized tomographic signs of cerebral atrophy.

Ninety-three patients with a diagnosis of Parkinson's disease, otherwise unselected, were specifically evaluated for organic mental syndrome (OMS) and other neurologic motor signs other than those referrable to extrapyramidal dysfunction; in addition, they had cranial computerized tomography (CT) to measure any structural changes in brain parenchyma. Cortical (sulci) atrophy and ventricular enlargement as CT signs of cerebral atrophy were correlated with different clinical patterns of the disease. An age-adjusted control population, with intact mentation, was similarly studied. The presence of classic OMS in a sizable segment of the usual parkinsonian population was invariably associated with CT signs of cerebral atrophy. Atrophic changes on CT scans, however, were not necessarily correlated with any intellectual dysfunction, or only weakly so, independent of age. The "typical" parkinsonian patients without evidence of OMS were indistinguishable from an age-adjusted control group with regard to structural changes in their scans. However, the parkinsonian patients with definite, permanent OMS and other focal neurologic deficit probably constitute a separate or distinct subset of the parkinsonian population, with a pathologic substrate more likely to be similar to that of the so-called Alzheimer-type dementias. Duration of the parkinsonian syndrome was not predictive of either mental status or scan findings, after adjustment for age as a factor.

Aged↗

PubMed1983

Hand muscle atrophy in multiple sclerosis.

The occurrence of muscular atrophy in multiple sclerosis (MS) has been considered unusual and classically has been ascribed to disease involving the motor unit. Nine patients with MS in a single clinic were found by strict criteria to have focal hand muscle atrophy associated with weakness. None had electrodiagnostic evidence of either anterior horn cell or axonal abnormalities. These observations indicate that focal muscular atrophy is common in MS; it may often occur as a result of relative disuse resulting from disease of central pathways involved in motor control.

Adult↗

PubMed1988

Disproportionate atrophy of cerebral white matter in chronic alcoholics.

Morphometric analysis of postmortem brains from chronic ethyl alcohol abusers and controls was performed to determine the regional distribution and extent of atrophy in the cerebral hemispheres of alcoholics. This study was performed by digitizing photographs of coronal slices of the brains to compute the cross-sectional area of the cerebrum, cerebral cortex, subcortical nuclei, cerebral white matter, and the ventricular system at five standardized levels. Although the alcoholics and controls had similar demographic features and mean brain weights, brains from the alcoholic group showed mild but consistent atrophy of the cerebral cortex (2.5% to 4.2% reductions in cross-sectional area at all five levels), moderate atrophy of cerebral white matter (6.1% to 17.5% reductions), and enlargement of the ventricular system (31.8% to 71.9% increases). There were no differences in the sizes of subcortical nuclei. The absolute increase in the size of the ventricles in the alcoholic group was roughly equal to the amount of tissue lost in cerebral white matter, thereby representing hydrocephalus ex vacuo. The disproportionate loss of cerebral white matter relative to cerebral cortex suggests that a major neurotoxic effect of chronic alcohol intoxication in the central nervous system is axonal degeneration.

Adult↗

PubMed1990

X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia.

Kennedy's syndrome, X-linked adult-onset bulbospinal muscular atrophy, has been described in over 30 families. The characteristic distribution of weakness creates a recognizable syndrome, augmented by frequent findings of testicular atrophy and gynecomastia. Type IV or type II hyperlipoproteinemia has been found in some families. We have studied another family with Kennedy's syndrome, this one with hypobetalipoproteinemia. The diversity of serum patterns suggests that lipoprotein abnormalities are not causally related to either the endocrinopathy or the spinal muscular atrophy. However, gene linkage studies indicate proximity of the gene for Kennedy's syndrome and the gene encoding the androgen receptor, which could explain the combination of a motor neuron disorder and the endocrine abnormalities.

Adult↗

PubMed1993

Temporal lobe atrophy on magnetic resonance imaging in the diagnosis of early Alzheimer's disease.

OBJECTIVE: To evaluate the use of simple ratings and linear measures of atrophy in the temporal lobe structures obtained with magnetic resonance imaging coronal scans in the diagnosis of early Alzheimer's disease. DESIGN: Prospective series. The National Institute for Neurological Disorders and Stroke-Alzheimer's Disease and Related Disorders Association criteria for probable Alzheimer's disease. Blinded assessment. SETTING: Dementia study in a university hospital. SUBJECTS: Patients with Alzheimer's disease (n = 34), scoring 150 or more on the Extended Scale for Dementia, and age-matched healthy community volunteers (n = 39) who had both magnetic resonance imaging coronal scans and a psychometric assessment using the Extended Scale for Dementia within 6 months were included. MEASURES MAIN MEASURES: T1-weighted magnetic resonance imaging coronal scans, a 1.5-T system. The degree of atrophy rated (0 to 4) in both sides of the temporal neocortex, entorhinal cortex, hippocampal formation, temporal horns, third ventricle, lateral ventricles, and frontal and parietal cortex. Linear measures: the area of hippocampus and the maximal transverse width of temporal horns. RESULTS: Differentiation between patients with Alzheimer's disease and controls was limited by considerable variations in sensitivity and specificity. Receiver operating characteristics analysis revealed a clear order of discrimination, the entorhinal cortex and the temporal neocortex being the two best, followed by the temporal horns and hippocampal formation. For a given specificity of 90%, the corresponding sensitivity for the entorhinal cortex, temporal neocortex, temporal horns, and hippocampal formation was 95%, 63%, 56%, and 41%, respectively. Linear measures differed significantly but showed considerable overlap. CONCLUSION: The presence of rated atrophy in selected temporal structures makes the diagnosis of Alzheimer's disease more likely, but the absence does not rule out the possibility of early Alzheimer's disease.

Adult↗

PubMed1993

Multiple system atrophy and progressive supranuclear palsy. Diminished striatal D2 dopamine receptor activity demonstrated by 123I-IBZM single photon emission computed tomography.

OBJECTIVE: To measure D2 dopamine receptors in the striatum in patients with multiple system atrophy and progressive supranuclear palsy by I 3-iodo-6-methoxybenzamide labeled with iodine I 123 (123I-IBZM) single photon emission computed tomography and differentiate them from control subjects. DESIGN: Survey with the following as retrospective criterion standards: (1) parkinsonism, (2) negative apomorphine test, and (3) no or only slight reaction to dopaminergic medication. SETTING: Ambulatory or hospitalized care in an academic referral center. PATIENTS AND CONTROL SUBJECTS: Twenty-one patients with parkinsonism not responding to dopaminergic medication (17 with multiple system atrophy and four with progressive supranuclear palsy) and 21 control subjects without parkinsonism. INTERVENTION: In vivo imaging by single photon emission computed tomography using the D2 dopamine receptor specific radioligand 123I-IBZM. MAIN OUTCOME MEASURE: Striatum/occipital cortex ratio of count rate density as semiquantitative measurement for striatal D2 dopamine receptor density. RESULTS: A highly significant loss of striatal uptake of 123I-IBZM was observed in the patients in comparison to the control subjects with little or no overlap between values. CONCLUSIONS: The hypothesized loss of D2 receptors in multiple system atrophy has been confirmed. Use of 123I-IBZM single photon emission computed tomography may be a cost-effective alternative to positron emission tomography in the differential diagnosis of parkinsonism and in the selection of patients for dopaminergic therapy.

Adult↗