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PubMed1984

Does testing of brainstem auditory response aid diagnosis in progressive spastic paraparesis?

40 patients with progressive spastic paraparesis of uncertain cause were studied in order to assess the outcome of their investigations. Abnormalities of the visual evoked response (VER) were found in 33%, indicating a second lesion in the nervous system. An additional 15% had abnormalities of the brainstem auditory evoked potentials (BAEP), indicating an supra-spinal, though not necessarily a second lesion. Qualitative CSF examinations for oligoclonal IgG banding showed abnormality in 30%, and considerable overlap (83%) with the patients who had abnormal VER, but not in those with an abnormal BAEP alone. It is concluded that the BAEP is of value when the VER and CSF are normal.

Brain Stem↗

PubMed1990

Human T-lymphotropic virus type I (HTLV-I) and tropical spastic paraparesis or HTLV-I-associated myelopathy in Hawaii.

Tropical spastic paraparesis or human T-lymphotropic virus type I (HTLV-I)-associated myelopathy is a degenerative encephalomyelopathy with pyramidal tract dysfunction affecting the lower extremities. It is associated with HTLV-I infection and found primarily in the Caribbean region and in southwestern Japan. Five cases of tropical spastic paraparesis (or HTLV-I-associated myelopathy) in Hawaii are reported. All five patients were born in Hawaii; four are women. Each of the patients has parents who were from HTLV-I-endemic areas of Japan. Two of these patients had serum antibodies to HTLV-I. Five of six of the spouses and children of the seropositive patients were also seropositive. Viral cultures of lymphocytes from both seropositive patients and two of the three seropositive children were positive for HTLV-I. None of the five patients had a history of antecedent blood transfusion, multiple sexual partners, or intravenous drug use. There is no evidence of adult T-cell leukemia or lymphoma in any of the patients or their families. Given the increasing seroprevalence of HTLV-I in the United States, clinicians need to be alert to new cases of this disorder.

Back Pain↗

PubMed1987

Human T-lymphotropic virus type I antibodies in the serum of patients with tropical spastic paraparesis in the Seychelles.

Tropical spastic paraparesis (TSP), a chronic myelopathy of unknown etiology, was studied in the Seychelles. Human T-lymphotropic virus type I (HTLV-I) and human immunodeficiency virus antibodies were determined using an enzyme-linked immunosorbent assay and confirmed with an indirect fluorescent antibody test in serum samples of 20 patients with TSP and 16 controls. Test results indicated that 17 patients (85%) and two controls (transverse myelopathy and clinically probable multiple sclerosis) were positive for HTLV-I. Serum samples of nine healthy controls and five with other neurologic diseases were negative for HTLV-I. No serum samples were positive for human immunodeficiency virus. Estimated relative risk for TSP in those subjects whose serum is positive for HTLV-I antibodies is 40. This result is highly statistically significant. Although primarily associated with adult T-cell leukemia and non-Hodgkin's lymphoma, HTLV-I could also be an etiologic agent of TSP.

Adult↗

PubMed2003

The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.

Hereditary spastic paraparesis (HSP) is a genetically heterogeneous disorder, the most common cause of which is mutation of the spastin gene. Recent evidence suggests a role for spastin in microtubule dynamics, but the distribution of the protein within the CNS is unknown. The core neuropathology of HSP is distal degeneration of the lateral corticospinal tract and of fasciculus gracilis, but there are few neuropathological studies of cases with a defined mutation. We aimed to determine the distribution of spastin expression in the human CNS and to investigate the cellular pathology of the motor system in HSP due to mutation of the spastin gene. Using an antibody to spastin, we have carried out immunohistochemistry on postmortem brain. We have demonstrated that spastin is a neuronal protein. It is widely expressed in the CNS so that the selectivity of the degeneration in HSP is not due to the normal cellular distribution of the protein. We have identified mutation of the spastin gene in 3 autopsy cases of HSP. Distal degeneration of long tracts in the spinal cord, consistent with a dying back axonopathy, was accompanied by a microglial reaction. The presence of novel hyaline inclusions in anterior horn cells and an alteration in immunostaining for cytoskeletal proteins and mitochondria indicates that long tract degeneration is accompanied by cytopathology in the motor system and may support a role for derangement of cytoskeletal function. All 3 cases also demonstrated evidence of tau pathology outside the motor system, suggesting that the neuropathology is not confined to the motor system in spastin-related HSP.

Adenosine Triphosphatases↗

PubMed2000

Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.

Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene. L1 plays a key role in axon outgrowth and pathfinding during the development of the nervous system. We describe the case of a boy from the United Arab Emirates who presented with CRASH syndrome. Scanning the L1 gene of the patient resulted in the discovery of a novel missense mutation: transition of a G (guanine) to T (thymine) at position 604 (G604-->T), which results in conversion of aspartic acid to tyrosine at position 202 (D202Y) of the L1 protein. It is very likely that the cerebral dysgenesis is due to the abnormal structure and function of L1.

Agenesis of Corpus Callosum↗

PubMed1995

X-linked pure familial spastic paraparesis. Characterization of a large kindred with magnetic resonance imaging studies.

OBJECTIVE: Families with pure X-linked familial spastic paraparesis are rare. We describe a large kindred with the "pure" form of X-linked familial spastic paraparesis with seven clinically affected males. The current study was designed to identify the presence of nuclear magnetic resonance imaging (MRI) abnormalities in the affected individuals. PATIENTS AND METHODS: Twenty-three individuals were examined, and MRIs of the brain were obtained in all seven affected males and two females. RESULTS: The disease is characterized by spastic gait and increased reflexes without other associated neurologic signs. No male-to-male transmission has been documented in this pedigree. Magnetic resonance images of the brain in affected individuals demonstrate discrete white matter lesions in the periatrial regions, more prominent posteriorly. Similar, although not as extensive, white matter lesions were detected in the brain of the single obligate female carrier studied with MRI. CONCLUSIONS: We report previously undescribed (to our knowledge) findings of MRI in pure X-linked familial spastic paraparesis and discuss the use of MRI in the diagnosis of this disorder and as a possible screening study of potential carriers.

Adolescent↗

PubMed1987

Endemic tropical spastic paraparesis associated with human T-lymphotropic virus type I: a clinical and seroepidemiological study of 25 cases.

Tropical spastic paraparesis (TSP) is a common myeloneuropathy with primary and predominant involvement of the pyramidal tract and minimal sensory loss. The epidemic form of TSP is related to toxic nutritional factors, but the endemic form occurs in clusters in tropical areas, especially in India, Africa, the Seychelles, Colombia, and areas of the Caribbean. We describe the clinical and epidemiological features of 25 TSP patients from Martinique (French West Indies) with serum antibodies to human T-lymphotropic virus type I (HTLV-I). Furthermore, all 11 patients who were seropositive for HTLV-I had specific HTLV-I antibodies in their CSF. All were women. The age of onset varied from 25 to 60 years (mean, 45 years). The main clinical features are spastic paraparesis or paraplegia with spasticity of the upper limbs, minimal sensory loss, and bladder dysfunction. Minimal estimated incidence and prevalence are 1 per 100,000 inhabitants per year and 8 per 100,000, respectively. Seventeen percent of the relatives of patients with HTLV-I-associated TSP have HTLV-I antibodies (1 husband and 7 children). In Martinique, the prevalence of HTLV-I antibodies in the general population is about 2% and reaches 10% for neurological disorders other than TSP. Since our initial report, the association between spastic paraparesis and HTLV-I has been confirmed in Jamaica, Colombia, and Japan, suggesting the neurotropism of this lymphotropic human retrovirus.

Adult↗

PubMed2004

A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.

BACKGROUND: Early-onset familial Alzheimer disease is caused by mutations in the amyloid precursor protein (APP), presenilin-1 (PSEN1), or presenilin-2 (PSEN2) genes. Phenotypic diversity has been reported to be associated with various mutations in PSEN1. Various mutations of PSEN1 have been reported in cases of early-onset Alzheimer disease with spastic paraparesis. OBJECTIVE: To describe a novel mutation in the PSEN1 gene associated with early-onset Alzheimer disease with spastic paraparesis. PATIENT AND METHODS: The patient was a 27-year-old man who developed early-onset dementia with spastic paraparesis. We examined sequences of the PSEN1, PSEN2, and APP genes from the patient and his family. To detect a possible mutation effect on the production of amyloid-beta peptide (Abeta), transfected HEK293 cells were examined for Abeta42 and Abeta40 production. RESULTS: We found a novel mutation (Leu85Pro) in PSEN1. This mutation influenced the production of Abeta, resulting in a 2-fold elevation of Abeta42 production and of the Abeta42/40 ratio. CONCLUSION: To our knowledge, this is the first report of very early-onset Alzheimer disease with spastic paraparesis and with the visual variant form of the disease, which is associated with visuospatial cognitive disorder. The Leu85Pro mutation in PSEN1 was pathogenic.

Adult↗

PubMed2004

X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis.

We present a family in which an initial clinical diagnosis of autosomal dominant pure hereditary spastic paraparesis (HSP) was made on the basis of a three generation pedigree in which both males and females presented with a spastic paraparesis. Subsequent biochemical and genetic analysis revealed that the family was in fact affected by the adrenomyeloneuropathy subtype of X-linked adrenoleukodystrophy. In the family described, both males and females were affected by a spastic paraparesis, and there was no male to male transmission, consistent with both autosomal dominant and X-linked inheritance. This report illustrates the importance of assaying very long chain fatty acids (VLCFAs) in any HSP family where there is no male to male transmission.

Adrenoleukodystrophy↗

PubMed2001

A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.

Hereditary spastic paraparesis (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder characterised by progressive lower limb spasticity and weakness. Some forms have been associated with white matter lesions and complex phenotypes. This study was prompted by the diagnosis of multiple sclerosis (MS) in two sisters from a large pedigree with hereditary spastic paraparesis. Twelve affected members of the extended family were examined (MRI and EEG were carried out and evoked potentials measured in five), and historical information was obtained from six affected deceased persons. The inherited disease phenotype was confirmed as autosomal dominant hereditary spastic paraparesis associated with epilepsy in four affected persons. None of the extended family had evidence of MS. Genetic analysis of the family has shown linkage to chromosome 2p and sequencing of the spastin gene has identified a 1406delT frameshift mutation in exon 10. This kindred demonstrates the clinical heterogeneity of HSP associated with spastin mutations. The possible relevance of the concurrence of HSP and MS in the sib pair is discussed.

Adenosine Triphosphatases↗

PubMed1992

Intrathecal baclofen in hereditary spastic paraparesis.

Intrathecal baclofen has not been previously evaluated for the treatment of the disabling hypertonia associated with hereditary spastic paraparesis. Muscle tone and deep-tendon reflexes were evaluated in three patients with hereditary spastic paraparesis after a double-blind, cross-over bolus injection of intrathecal baclofen. Patients underwent placement of a subcutaneous pump for continuous infusion of intrathecal baclofen. Three months after implantation the muscle tone decreased 2.04 points (p less than .0001) and the reflex score decreased 2.25 points (p less than .001). Patients initially reported subjective weakness, but muscle testing revealed either an increase or no change in voluntary motor function. Baclofen doses of 60 to 264 micrograms per day were required for effective control of muscle tone and spasticity. Much of the disability in familial spastic paraparesis may be related to the loss of suprasegmental inhibition of spinal reflexes overwhelming the residual voluntary motor function.

Baclofen↗

PubMed2005

Quantitative assessment of spasticity in human T-cell lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis.

People with human T-cell lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis (HAM/TSP) develop spasticity. The authors examined 34 patients with HAM/TSP in Perú using a device that measures tone in the gastroc-soleus-Achilles tendon unit and provides a quantitative spasticity assessment (QSA). Tone in the 34 patients was more than double that of women with asymptomatic HTLV-I infection. The device may help to track progression in HTLV-I infection.

Adult↗

PubMed1995

[Treatment of spastic paraparesis with botulinum toxin with reference to beneficial effects, disease severity and long-term treatment].

We administered local botulinum toxin injections on the leg adductors of 12 patients with spastic paraparesis (9 patients with HAM, 2 patients with spinal spastic paraparesis, 1 patient with an identified degenerative disease). Two of them were wheelchair-bound and the other patients could walk with or without help. The patients were assessed by the time to walk 10 m and the spasticity score which was derived from the degree of muscle tone and spasm frequency of leg adductors. After the initial injection, 7 of the 12 patients improved spasticity scores and 8 of the 10 patients could walk 10 m within a shorter time. The time to walk 10 m was markedly shortened in moderate cases. However, one patient complained of leg weakness and the time to walk 10 m was prolonged. Five of the 12 patients received injections 3 to 7 times, and were followed up for a mean of 16.2 months. In 4 of the 5 patients, repeated injections could maintain the improvement of spasticity score and time to walk 10 m. However, injection was discontinued in one patient because of leg weakness. The other side effects were pain and swelling at the injected site and dysarthria. However, these side effects were slight and transient and did not require treatment. No other systemic side effects were observed. In conclusion, the beneficial effects of botulinum injections to spastic paraparesis were (1) improvement of objective symptoms in mild cases, (2) improvement of ADL in moderate cases, and (3) improvement of objective symptoms and ease of nursing care in severe cases. Furthermore, we confirmed the long-term efficacy and safety of botulinum toxin.

Adult↗

PubMed2004

HTLV-I associated myelopathy/tropical spastic paraparesis in a 7-year-old boy associated with infective dermatitis.

HTLV-I associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic myelopathy characterized by a slowly progressive spastic paraparesis and sphincter disturbances beginning in adulthood. Only eight well-documented cases occurring in childhood and adolescence have been described. Infective dermatitis associated to the HTLV-I (IDH) is a chronic eczema of childhood occurring in vertically infected carriers. Here we describe a 7-year-old boy with HAM/TSP and IDH. The neurological manifestations were spastic gait, hyperreflexia of lower limbs, clonus and bilateral Babinski's sign. High levels of HTLV-I antibodies in the serum and in the cerebrospinal fluid were observed. The association of these two diseases and the early onset of HAM/TSP are probably related to a strong humoral anti-HTLV-I response.

Antibodies, Viral↗

PubMed1995

Progression of neurological disability in HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP).

HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is apparently a disease with a chronic evolution without spontaneous remissions. The real profile of its natural history and of the progression of the neurological disability, however, awaits confirmation. We devised the present study to evaluate the progression profile of the neurological disability of HAM/TSP in a series of 43 patients who have never received any kind of previous immune therapy. Patients were divided into different groups according to the duration of their disease. Age, gender and the Kurtzke's disability status scale (DSS) at the time of the first examination were compared. There were no statistically significant differences among groups with different disease duration. The present study suggests that the evolution of the neurological disability in HAM/TSP occurs mainly during the first year of the disease and becomes relatively stable after that. Therefore we speculate that the variable therapeutic success rates observed in many series of the literature could be due to the timing in the beginning of the pharmacological immunosuppression. Probably the therapeutic window in HAM/TSP lies within the first year of the disease. Thus it might be of utmost importance that future therapeutical trials take into consideration the duration of the disease since this factor can play an important role in the results of the trial.

Adolescent↗

PubMed1996

Segmental demyelination induced by cerebrospinal fluid of progressive spastic paraparesis: correlation with altered proteolytic parameters.

Progressive spastic paraparesis (PSP) is a demyelinating disease of the central nervous system. We studied the ability of the cerebrospinal fluid (CSF) of patients to induce alterations in rat peroneal nerves, and to modify the proteolytic activity of trypsin in vitro. Subperineurial injection of native or heated CSF of patients induced segmental demyelination and other cytological alterations 5-7 days later, in the infiltrated zone, while proximal and distal regions were normal. The CSF of normal subjects did not induce demyelination, but upon heating, it did so. Trypsin was strongly inhibited by the normal CSF but upon heating, its inhibitory activity was replaced by a strong potentiation. In contrast, native and heated CSF of patients potentiated trypsin. Our findings indicate that (1) the normal CSF contains a thermostable factor that potentiates trypsin whose function is overruled by thermolabile protease inhibitors; (2) the CSF of PSP patients has a reduced inhibitory activity and a conserved ability to potentiate trypsin; and (3) the CSF is endowed with a pathogenic power that correlates with an unchecked potentiating activity. We propose that the imbalance of a protease system may play a role in the pathogenesis of PSP lesions.

Animals↗

PubMed2004

Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; report of two sisters.

OBJECTIVES: To describe the clinical, cognitive, neurophysiological and radiological features of autosomal recessive hereditary spastic paraparesis (ARHSP) with thin corpus callosum. PATIENTS AND METHODS: Two sisters with spastic paraparesis. RESULTS: MRI brain scans demonstrated thinning of the corpus callosum. The clinical features were progressive spastic paraparesis beginning in the second decade, dysarthria, minor dystonia and chorea, distal weakness and cognitive impairment with frontal dysfunction. Motor compound action potentials are reduced and EMG demonstrated minor chronic denervation. Magnetic stimulation studies demonstrated increased threshold consistent with pyramidal system axonal loss. CONCLUSIONS: AHRSP with thinned corpus callosum is a distinct clinical and genetic entity that may occur in non-Japanese individuals.

Adult↗

PubMedDate not supplied

HTLV-1 and tropical spastic paraparesis. 1. Clinical features, pathology and epidemiology.

The clinical profile of tropical spastic paraparesis (TSP), described in scattered tropical and subtropical territories over the past 30 years, has been more clearly defined since the discovery of its direct association with human T lymphotropic virus type 1 (HTLV-1). A chronic disease of adults, commoner in women, it usually presents as a progressive spastic paraparesis with sphincter disturbance, sometimes with backache and lower limb sensory disorder. Most cases are chair-bound within 10 years. Histology reveals a chronic lymphocytic meningomyelopathy, predominantly in the spinal cord, together with long tract demyelination and hyalinoid thickening of the media and adventitia of small blood vessels. Geographical areas of high prevalence of TSP are known in the Caribbean, South America, South Africa, southern Japan, the Seychelles and probably in India, and it is sparsely endemic elsewhere. The virus appears to exist within lymphocytes for long periods. Vertical transmission occurs postnatally, and sexual and transfusion infection are also recognized, but much remains to be clarified regarding its pathogenesis and epidemiology.

Brain Stem↗