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PubMed2003

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.

BACKGROUND: Hereditary spastic paraparesis (HSP) denotes a group of inherited neurological disorders with progressive lower limb spasticity as their clinical hallmark; a large proportion of autosomal dominant HSP belongs to HSP type 4, which has been linked to the SPG4 locus on chromosome 2. A variety of mutations have been identified within the SPG4 gene product, spastin. OBJECTIVE: Correlation of genotype and electrophysiological phenotype. MATERIAL: Two large families with HSP linked to the SPG4 locus with a very similar disease with respect to age of onset, progression, and severity of symptoms. METHODS: Mutation analysis was performed by PCR from genomic DNA and cDNA, and direct sequencing. The motor system was evaluated using transcranial magnetic stimulation. RESULTS: Patients differ in several categories depending on the type of mutation present. CONCLUSIONS: For the first time in hereditary spastic paraparesis, a phenotypic correlate of a given genetic change in the spastin gene has been shown.

Adenosine Triphosphatases↗

PubMed2004

Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation.

The most common form of autosomal dominant hereditary spastic paraparesis (HSP), SPG4, is caused by mutations in the spastin gene on chromosome 2p. This disease is characterized by intra- and interfamilial phenotypic variation. To determine the predictive values of clinical signs and symptoms in SPG4, we examined 43 members of a large pedigree with autosomal dominant HSP. We then identified the genetic etiology of the disorder in this family, a novel nonsense mutation in exon 1 of spastin, carried by 24 of the examined family members. The best clinical predictors of positive gene status were the presence of hyperreflexia in the lower extremities, >2 beats of ankle clonus, pes cavus, bladder symptoms and increased tone in the legs. The mean age of onset was 32.2 +/- 7.4 years, but the age of onset was earlier in children from 10 of 12 child-parent gene-positive pairs, with a mean difference of 10.8 +/- 3.3 years. The finding of leg weakness was especially common in older-onset affected family member with leg hyperreflexia. These results suggest that specific clinical signs and symptoms may be of value in differentiating individuals affected with SPG4 from family members with nonspecific neurological findings.

Adenosine Triphosphatases↗

PubMed1999

[HTLV-I tax gene on the etiological identification of tropical spastic paraparesis. A clinical, serological and polymerase chain reaction (PCR) study in 72 patients].

BACKGROUND: Tropical spastic paraparesis (TSP) is an endemic disease in Chile. In most countries, only 50% of patients are seropositive to HTLV-I. However, new studies suggest that seronegative TSP is also associated with HTLV-I. AIM: To describe clinical and virological features of seronegative patients with TSP. PATIENTS AND METHODS: Seventy two Chilean patients with TSP, studied by clinical, radiological and laboratory methods during 1998, are reported. The determination of antibodies to HTLV-I was accomplished by ELISA, immunofluorescence and Western-blot analysis. Polymerase chain reaction for tax and 5'Ltr genes was made using primers SK 43-44, LTR1 and LTR6. RESULTS: Thirty one patients were HTLV-I positive and 41 were negative. No clinical, radiological or laboratory differences were observed between both groups. In seropositive patients, tax and 5'ltr viral gene sequences of the HTLV-I provirus were detected in DNA of peripheral blood mononuclear cells. In seronegative cases, sequences of tax gene were detected, exclusively, in 18 of 41 patients. CONCLUSIONS: These results confirm an association with HTLV-I infection in 43.9% of the TSP seronegative patients. These findings support the hypothesis that a defective provirus infects peripheral blood mononuclear cells in seronegative cases of TSP. The importance tax gene in the diagnosis of the TSP is also emphasized.

Adult↗

PubMed1990

Complicated hereditary spastic paraparesis with cerebral white matter lesions.

A family is described with 5 males in a single generation affected with a previously undescribed complicated form of hereditary spastic paraparesis (HSP). The disease is characterized by speech difficulties, lower limb spasticity and hyper-reflexia, mental retardation, cerebellar ataxia, and tremor. The disease starts in the first decade of life and progresses for 3 to 6 years before stabilizing. Magnetic resonance imaging (MRI) of the brain demonstrates bilateral posterior periventricular white matter lesions. Visual evoked responses are markedly prolonged, but electromyography (EMG) and nerve conduction velocity studies are normal. Three of the 4 living affected members of this pedigree exhibit red-green color vision defects. The presentation of a new complicated hereditary spastic paraparesis syndrome in this pedigree extends our understanding of the variability and heterogenity of this syndrome and suggests an approach for the evaluation of similar families in future genetic studies.

Adolescent↗

PubMed1999

Syringohydromyelia or HTLV-I-associated myelopathy/tropical spastic paraparesis. A diagnostic challenge. Case report.

Human T-cell lymphotropic virus type I (HTLV-I) associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the most common chronic myelopathy in Brazil. We present the case of a 53 year old man that fulfilled the diagnostic criteria for HAM/TSP but had at the magnetic resonance imaging (MRI) of the spinal cord evidences of syringohydromyelia at the C6-C7 and D2-D7 levels along with Chiari type I malformation. The clinical picture was more typical of HAM/TSP than of syringohydromyelia, which was probably asymptomatic. The present case clearly demonstrates that serology and neuroimaging should be always used together. We conclude that, specially in places where HTLV-I is endemic, every patient with a spastic paraparesis, even with a radiological picture suggestive of a structural spinal cord lesion, should have a screening test for HTLV-I. The clinical picture must dictate the final direction of the diagnosis.

Humans↗

PubMed2000

Variant Alzheimer's disease with spastic paraparesis: clinical characterization.

OBJECTIVE: To present the clinical, neuroimaging, and electrophysiologic characteristics of a variant AD phenotype. BACKGROUND: The authors have identified a large Finnish kindred with presenile dementia and spastic paraparesis due to deletion of exon 9 of presenilin 1. Neuropathologic analysis showed unusual cortical "cotton wool" plaques, immunoreactive for the beta-amyloid peptide but lacking congophilic cores. PATIENTS AND METHODS: Twenty-two affected individuals (16 men and 6 women) were identified in four successive generations. All surviving five patients were examined and subjected to molecular genetic analysis. In addition, the neurologic records of nine deceased patients were evaluated. Electrophysiologic investigations were available in eight cases. CT or MRI of the head had been performed on 11 patients and PET was performed on three patients. RESULT: The mean age at onset (+/-SD) was 50.9 +/- 5.2 years (range 40 to 61 years). Memory impairment was present in all patients. Memory impairment appeared simultaneously with or was preceded by walking difficulty due to spasticity of the lower extremities (10/14). Impaired fine coordination of hands (9/14) and dysarthria (6/14) in some patients suggested cerebellar involvement. EEG showed intermittent generalized delta-theta activity. Head MRI showed temporal and hippocampal atrophy; PET showed bilateral temporo-parietal hypometabolism. CONCLUSION: Spastic paraparesis or brisk stretch reflexes of lower extremities or clumsiness of hands combined with dementia suggests this variant of AD.

Age of Onset↗

PubMed1993

Spirochetal antibodies in tropical spastic paraparesis: their significance.

The prevalence of antibodies to Treponema pallidum and Borrelia burgdorferi was investigated in Jamaicans with tropical spastic paraparesis (TSP). A significantly higher prevalence of reactive serologic tests for syphilis (STS) was found in TSP patients (35.0%) when compared with controls (14.5%; P < .001). Venereal Disease Research Laboratory (VDRL) test titers less than 1:8 were obtained in 88.4% of reactive sera from patients and in all reactive sera of controls. The biologic false-positive rate was also significantly higher in TSP patients (P < .05). A higher frequency of a reactive STS was observed in TSP patients (P < .01) and controls (P < .001) more than 40 years of age. The prevalence of reactive serologic tests for syphilis in TSP patients younger than 40 years was also higher than in controls in this age group (P < .1). The prevalence of positive immunofluorescent antibody tests and enzyme immunoassay for antibodies to B burgdorferi was similar in sera of TSP patients (12.5%) and healthy controls (10%). However, none of the sera was positive by Western immunoblot. Leptospiral antibodies were not present in any serum tested. This study's data do not support an etiologic role for treponemal disease in tropical spastic paraparesis, but rather suggest that the high prevalence of reactive STS in Jamaicans is multifactorial.

Adolescent↗

PubMed2003

Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.

Several pedigrees have recently been reported in which dominantly inherited familial Alzheimer's disease is associated in some family members with spastic paraparesis and non-neuritic 'cotton wool' plaques. Here we report clinical, genetic and neuropathological findings in two further large pedigrees in which this combination of phenotypes is associated with a deletion of exon 9 of the presenilin-1 (PS-1) gene caused by mutations at the splice acceptor site. In both pedigrees, individuals with paraparesis at presentation had a later than average age at onset of symptoms. In addition, one subject with paraparesis had a much less prominent dementia syndrome than his dementia-affected siblings. As PS-1 mutations are almost always associated with a particularly aggressive form of presenile dementia, these findings suggest the existence of a protective or delaying factor in individuals with spastic paraparesis.

Adult↗

PubMed1998

HTLV-I-associated myelopathy/tropical spastic paraparesis in Brazil: a nationwide survey. HAM/TSP Brazilian Study Group.

To study the epidemiology of HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in Brazil, we conducted a nationwide survey between March 1994 and April 1995. Five centers from three regions of the country participated, enrolling 163 patients. Most patients came from the northeastern and southeastern regions (93.2%). Most enrollees were white women, 42.9% and 64.4%, respectively. The most common risk factors for infection included a history of venereal diseases (30.6%) and blood transfusion (21.6%). The median age at the beginning of the disease was 42 years. The main neurologic findings were spastic paraparesis, widespread brisk tendon jerks, bilateral Babinski's sign, and bladder dysfunction. Some interregional differences reached statistical significance. The ratio of females over males increased from south to north. In addition, in both southern and southeastern regions, whites prevailed, whereas in the northeast, mulattos predominated. This follows the normal distribution of the population in these regions. A significantly higher rate of venereal diseases was found in the southeast compared with the other regions studied. A history of intravenous drug use was more frequent among patients as the sample moves south. Finally, a fluctuating course of the disease was proportionally more frequent in the southern region.

Adolescent↗

PubMed1996

[Tropical spastic paraparesis: a necessary redefinition].

The author disserts on the definition of Tropical Spastic Paraparesis since its first description up to the etiological involvement of HTLV-1 in part of the cases. According to him the basic nucleus of the syndrome consists of a paraparesis with pyramidal signs (spasticity and hyperreflexia) with variable sensory and sphincter symptoms. The retroviral etiology by HTLV-1 is one of the variable elements of the condition. He aims at preventing conceptual distortions in the description of this condition.

Humans↗

PubMed1995

A follow-up study on spastic paraparesis in Japanese HAM/TSP.

We followed 24 patients with HTLV-I-associated myelopathy (HAM) for 4-12 years (mean 7 years) and assessed longitudinal changes of their spastic paraparesis by Kurtzke's Disability Status Scale (DSS). The DSS score of spastic paraparesis was unchanged in 18 patients (75%), advanced (worsened) by two in 1 patient and by one in 3 patients, and declined (improved) by one in 2 patients during the follow-up period. The results demonstrated that HAM presents with a variety of clinical courses including spontaneous improvement.

Adult↗

PubMed2001

Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype.

Variant Alzheimer disease (varAD) is clinically characterized by the combination of presenile dementia with spastic paraparesis and is caused by certain mutations of the presenilin 1 (PS-1) gene. We now present the unusual neuropathological phenotype of varAD as seen in 5 affected members of the original Finnish family with a genomic deletion encompassing exon 9 of the PS-1 gene. Their primary and association cortices and hippocampus showed a profusion of eosinophilic, roundish structures with distinct borders termed "cotton wool" plaques (CWPs). The CWPs were immunoreactive for Abeta42/43 but weakly or not at all for Abeta40 isoforms of the amyloid beta peptide (Abeta). They were devoid of a congophilic core, and fibrillar amyloid could not be identified within them by electron microscopy. Confocal microscopy showed reduced density of axons within individual CWPs and only few CWP-related PHF-tau-positive dystrophic neurites. CWPs were particularly numerous in the medial motor cortex representing the lower extremities, and degeneration of the lateral corticospinal tracts was observed at the level of the medulla oblongata and the spinal cord. In addition to the predominant CWPs, variable numbers of diffuse and cored plaques were found in the cerebral cortex. Diffuse and non-neuritic cored amyloid plaques but no CWPs occurred in the cerebellum. In conclusion, varAD in this Finnish family is distinct from classic AD because of the degeneration of lateral corticospinal tracts, predominance of CWPs devoid of fibrillar amyloid cores in the cerebral cortex, and presence of non-neuritic amyloid plaques in the cerebellum.

Alzheimer Disease↗

PubMed1988

Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder.

We report a family with branchial myoclonus, spastic paraparesis, and cerebellar ataxia in which six members were affected in two generations and the inheritance appeared to be autosomal dominant. Age at onset ranged from 40 to 50 years. Rhythmic myoclonus involving the palate, pharynx, larynx, and face was followed by truncal ataxia and spastic paraparesis in most patients. CT and MRI revealed mild atrophy of the cerebral and cerebellar cortex and severe atrophy of the medulla and spinal cord. The pons appeared normal and the olives not hypertrophic. CSF studies revealed severe reduction of the serotonin metabolite 5-hydroxyindoleacetic acid. Treatment with 5-hydroxytryptophan and carbidopa at highest tolerated dose mildly improved ataxia but did not modify the myoclonus. Treatment with anticholinergics, benzodiazepines, phenytoin, valproate, carbamazepine, and baclofen was unsuccessful. The clinical symptoms were progressive, leading to death or severe disability 5 to 10 years after the onset of the disease.

Adult↗

PubMed1988

The neuroepidemiology of tropical spastic paraparesis.

Recent neuroepidemiological studies of endemic tropical spastic paraparesis (TSP) have confirmed the existence of high-prevalence foci in several tropical islands, including Jamaica and Martinique in the Caribbean, Tumaco off the Pacific coast of Colombia, and the Seychelles in the Indian Ocean. There is a net preponderance of TSP in persons of Black African ancestry, although Caucasian, Hindu, Amerindian, and Orientals have been affected. The epidemiological, clinical, laboratory, and neuropathological features of TSP are reviewed here, as well as the evidence in favor of its retroviral origin.

Adolescent↗

PubMed1988

Tropical spastic paraparesis: clinical, immunological, and virological studies in two patients from Martinique.

Two patients from Martinique with tropical spastic paraparesis had antibodies to human T-lymphotropic virus type I (HTLV-I) in serum and spinal fluid but no antibodies to other retroviruses tested. They presented with spastic weakness of both lower extremities, hyperreflexia with upgoing toes, sphincteric dysfunction, and normal sensation. By means of agarose isoelectric focusing and selective immunoblotting we demonstrated an increased intrathecal synthesis of IgG antibodies to HTLV-I in the spinal fluid. Unique oligoclonal bands of IgG antibodies to HTLV-I were present in the cerebrospinal fluid. Using a battery of monoclonal antibodies we also found in these patients an increased number of circulating T cells that expressed activation markers. We conclude that the HTLV-I retrovirus associated with tropical spastic paraparesis has both lymphocytotropic and neurotropic properties.

Adult↗

PubMed2005

ApaI polymorphism of vitamin D receptor gene is associated with susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis in HTLV-1 infected individuals.

HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is one outcome of human T-cell lymphotropic virus type-1 (HTLV-1) infection. It remains unknown why the majority of infected people remain healthy, whereas only approximately 2-3% of infected individuals develop the disease. The active form of vitamin D has immunomodulatory effects, and allelic variants of the vitamin D receptor (VDR) appear to be associated with differential susceptibility to several infectious diseases. To investigate whether VDR single nucleotide polymorphisms (SNPs) are associated with the development of HAM/TSP, we studied four VDR SNPs in a group of 207 HAM/TSP patients and 224 asymptomatic HTLV-1 seropositive carriers (HCs) in Kagoshima, Japan, by using PCR-RFLP analysis. We found that ApaI polymorphism of VDR is associated with the risk of HAM/TSP, although this polymorphism did not affect the provirus load of HTLV-1 in either HAM/TSP patients or HCs.

Adult↗

PubMed1991

Evoked potential abnormalities in progressive spastic paraparesis associated to HTLV-1.

The electrophysiological features of progressive spastic paraparesis (PSP) associated with HTLV-1 in Chile, a non-tropical country, are presented. Twenty-two of 45 PSP subjects were positive for HTLV-1 antibodies. Trimodal evoked potentials were all normal in only 2 of these cases (9.1%). Somatosensory evoked potentials (SSEPs) were abnormal in 19 patients (86.3%) with a mean amplitude of 1.31 uV SD 0.92. Visual evoked potentials (VEPs) and brainstem auditory evoked potentials (BAEPs) were normal in all patients except four. Peripheral nerve conduction was normal in all but one who showed discrete slowness of the motor conduction velocity in the peroneal nerves. EMG was normal in 15 cases in whom it was performed. SSEP's were abnormal in 2 (8.7%) of 23 HTLV-1 negative cases with a mean amplitude of 2.4 uV SD 1.5, which is statistically different with respect to the positive cases (p less than 0.001). These results support an involvement of the spinal cord not restricted to the pyramidal tracts but also including subclinical damage of the posterior columns in PSP associated to HTLV-1.

Adult↗

PubMed1991

HTLV-I-associated myelopathy/tropical spastic paraparesis in the United States.

HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is endemic in the Caribbean basin and Japan. Because of the close proximity of the United States to the Caribbean and the presence of HTLV-I-seropositive persons in the United States, we sought reports of patients who were HTLV-I seropositive and had a slowly progressive myelopathy. Over a 2-year period, there were 25 patients reported, 19 of whom were black and 12 of whom had been born in the United States. All patients except two had become symptomatic while living in the United States. Six patients had no apparent risk factor for acquiring HTLV-I. These data demonstrate that HAM/TSP is occurring in the United States and that the diagnosis of HAM/TSP should be considered in patients with a slowly progressive myelopathy regardless of risk factors for acquiring HTLV-I.

Adult↗