Cases reported "Gait Ataxia"

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1/14. Neuromyotonia, myocloni, sensory neuropathy and cerebellar symptoms in a patient with antibodies to neuronal nucleoproteins (anti-Hu-antibodies).

    A middle-aged patient presented with subacute muscular stiffness, myocloni of both extremity and facial muscles, gait ataxia and symmetrical distal painful paraesthesias. Electrophysiologically, neuromyotonia was confirmed. High titer anti-Hu antibodies were detected, but no other paraneoplastic antibodies were found. Small-cell lung cancer was diagnosed. Under chemotherapy tumor remission was achieved and, except for minor sensory deficits, neurological symptoms disappeared. This report shows that paraneoplastic syndromes associated with antibodies to neuronal nucleoproteins (anti-Hu antibodies) may be associated with a syndrome including neuromyotonia, sensory neuropathy, cerebellar symptoms and myocloni.
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2/14. A case of Lafora's disease associated with cardiac arrhythmia.

    Progressive myoclonic epilepsies are rare, genetically transmitted diseases characterized by epileptic seizures, myoclonus, and progressive neurologic deterioration. Unverricht-Lundborg disease, Lafora's disease, neuronal ceroid lipofuscinosis, mitochondrial disorders, and sialidosis are included in this group. Lafora's disease is a progressive disorder of the central nervous system with onset in the late first or second decade of life and is inherited in an autosomal-recessive pattern. The first clinical manifestation is generalized tonic-clonic seizures, myoclonus, or both, usually seen between the ages of 11 and 18 years. The other clinical manifestations are progressive dementia and limb ataxia. diagnosis is based on showing the typical inclusions in the brain, liver, skin, or muscle tissue specimens. The case of a 6-year-old male patient, who was admitted with the clinical findings of third-degree atrioventricular block and dementia and eventually diagnosed with Lafora's disease, is presented.
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keywords = nervous system
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3/14. Os odontoideum with cerebellar infarction: a case report.

    STUDY DESIGN: A case report. OBJECTIVES: To report the case of a child with os odontoideum associated with cerebellar infarction and to discuss the correlation between atlantoaxial instability with os odontoideum and vertebrobasilar artery insufficiency. SUMMARY OF BACKGROUND DATA: knowledge of the influence of atlantoaxial instability on vertebrobasilar artery insufficiency remains limited despite the publication of several reports. methods: A 5-year-old boy with ataxic gait disturbance was hospitalized in the pediatric ward. magnetic resonance imaging revealed multiple cerebellar infarctions, and cerebral angiogram showed occlusions of several branches of the basilar artery and a winding of the left vertebral artery. Stress lateral radiographs of the cervical spine showed atlantoaxial instability with os odontoideum. Posterior C1-C2 transarticular screw fixation with iliac bone graft was applied to obtain firm stability and fusion. RESULTS: There was no damage to the vertebral arteries or spinal nerves in the perioperative period. Solid union of the grafted bone and rigid stability of the atlantoaxial joint were seen on lateral flexion-extension radiographs 1 year after the operation. There has been no sign of recurrent arterial insufficiency, and the patient has been free from cerebellar dysfunction to date. CONCLUSIONS: Atlantoaxial instability may cause insufficiency of the vertebral artery as well as spinal cord injury. More attention should be paid to the possible relation between atlantoaxial instability and vertebrobasilar artery insufficiency.
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keywords = nerve
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4/14. An established case of dentatorubral pallidoluysian atrophy (DRPLA) with unusual features on muscle biopsy.

    Dentatorubral pallidoluysian atrophy (DRPLA) belongs to the group of autosomal dominant ataxias. central nervous system pathology and inheritance are both well characterized, although the illness is rare. The presentation of a European child affected by this illness is described. He presented at 9 years of age with intractable progressive myoclonus epilepsy against a background of learning difficulties and developed progressive hypertonicity and dementia before his death at 15 years of age. Significant histological changes in a muscle biopsy were found. There was an absence of type IIB fibres and a predominance of type I fibres. Mean fibre diameter of all the fibre types was markedly reduced. All type I fibres showed an increase in lipid droplets. No previous descriptions exist of muscle histology in DRPLA. Although at least five adult family members have symptoms consistent with a diagnosis of DRPLA, their condition had not been recognized. We therefore describe the clinical picture and histological findings.
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5/14. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

    BACKGROUND: The genetic basis of most common forms of human paroxysmal disorders of the central nervous system, such as epilepsy, remains unidentified. Several animal models of absence epilepsy, commonly accompanied by ataxia, are caused by mutations in the brain P/Q-type voltage-gated calcium (Ca(2 )) channel. We aimed to determine whether the P/Q-type Ca(2 ) channel is associated with both epilepsy and episodic ataxia type 2 in human beings. methods: We identified an 11-year-old boy with a complex phenotype comprising primary generalised epilepsy, episodic and progressive ataxia, and mild learning difficulties. We sequenced the entire coding region of the gene encoding the voltage-gated P/Q-type Ca(2 ) channel (CACNA1A) on chromosome 19. We then introduced the newly identified heterozygous mutation into the full-length rabbit cDNA and did detailed electrophysiological expression studies of mutant and wild type Ca(2 ) channels. FINDINGS: We identified a previously undescribed heterozygous point mutation (C5733T) in CACNA1A. This mutation introduces a premature stop codon (R1820stop) resulting in complete loss of the C terminal region of the pore-forming subunit of this Ca(2 ) channel. Expression studies provided direct evidence that this mutation impairs Ca(2 ) channel function. Mutant/wild-type co-expression studies indicated a dominant negative effect. INTERPRETATION: Human absence epilepsy can be associated with dysfunction of the brain P/Q-type voltage-gated Ca(2 ) channel. The phenotype in this patient has striking parallels with the mouse absence epilepsy models.
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keywords = nervous system
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6/14. Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.

    Friedreich's ataxia, the most common autosomal recessive inherited ataxia, is characterized by progressive gait and limb ataxia. Friedreich's ataxia is known for its occurrence within the first or second decade of life and is associated with hypertrophic cardiomyopathy, and in some cases with diabetes. Genetically, it is identified by the expression of an unstable trinucleotide GAA repeat expansion located in the first intron of the X25 gene on chromosome 9. Two brothers with very late adult-onset ataxia, and their unaffected sister, were examined for the clinical presentation of FA and for the presence of the mutated FA gene. The relationship of the expanded gene sequence to the severity of disease and age of onset were evaluated. Clinical examination revealed that the two brothers had mild ataxia and proprioceptive loss, with age of onset between 60 and 70 years of age. dna from peripheral blood nucleated cells demonstrated a small homozygous expansion, with approximately 120-130 GAA repeats in the X25 gene in both patients. The expanded repeats were interrupted either with GAAGAG, GAAGGA, or GAAGAAAA sequences. The unaffected sister carried a normal FA genotype with 8-uninterrupted GAA repeat, observed by sequence analysis. In addition, the levels of FA gene transcript in both brothers were relatively lower than that in the unaffected sister. No detectable cardiomyopathy or diabetes was observed. Phenotypic diversity of FA is increasingly expanding. The age of onset and the structure of GAA repeat expansion plays an important role in determining the clinical features and the differential diagnosis of FA. The confirmation of the FA gene mutation in the atypical case, broadens the clinical spectrum of FA, and supports the idea that patients with even a mild form of ataxia of late adult onset should be considered for molecular testing.
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ranking = 0.079614480302741
keywords = peripheral
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7/14. friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia.

    Around a quarter of friedreich ataxia (FA) patients, despite being homozygous for GAA expansion within the FRDA gene, show atypical presentations. Our aim is to describe the case of three brothers with long-term follow-up suffering from late onset FA manifested with spastic ataxia. The three patients belong to a family with occipital dysplasia (OD) and Chiari I malformation previously reported by us. We have carried out serial examinations since 1977. Electrophysiological and neuroimaging studies, and molecular genetic analyses of hereditary ataxias are available in all three patients. Onset of symptoms occurred between 25 and 35 years. The clinical picture consisted of progressive spastic gait, truncal and limb ataxia, dysarthria, nystagmus, hyperreflexia with knee and ankle clonus and extensor plantar response, and mild hypopallesthesia. Ages at present vary between 50 and 59. One patient is wheelchair-bound but the other two are able to walk with support. Leaving OD aside, skeletal anomalies are not prominent. All three patients showed cardiomyopathy. MR imaging revealed atrophy of the cerebellum and spinal cord. Motor and sensory nerve conduction velocities were normal. Central conduction time of both motor and sensory pathways was delayed or unobtainable. All three patients were homozygous for the GAA expansion, the smaller expanded allele ranging between 131 and 156 repeats. Four heterozygotic carriers were detected among non-ataxic relatives including one with OD; furthermore, an asymptomatic OD patient showed normal genotype. We conclude that adult onset spastic ataxia is a distinctive FA phenotype associated with minimal GAA expansion. This phenotype represents a new cause of selective distal degeneration of central sensory axons. The present concurrence of OD and FA reflects coincidental cosegregation of two different inherited disorders.
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keywords = nerve
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8/14. The clinical and MRI correlate of ischaemia in the ventromedial midbrain: Claude's syndrome.

    The eponymous syndrome of Claude is caused by a lesion of the red nucleus and adjacent third nerve nucleus, resulting in the combination of an ipsilateral oculomotor palsy and contralateral ataxia. The MRI correlate of this syndrome has only occasionally been described. We present three cases with MRI findings which confirm the association of this clinical syndrome with infarction of the ventromedial midbrain. The coexistence of hypertension and small vessel ischaemia in two cases suggests this type of infarct may arise as a result of small vessel disease.
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keywords = nerve
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9/14. MR imaging findings of spinal posterior column involvement in a case of miller fisher syndrome.

    Summary: The site of lesions causing ataxia in miller fisher syndrome (MFS) remains in dispute. A 43-year-old man manifested rapidly progressive left-sided ptosis, bilateral abducens palsy, areflexia, and severe ataxia. Initial MR imaging showed confined lesions of the cauda equina with gadolinium enhancement. A diagnosis of MFS was made, and the patient underwent immunotherapy. His ophthalmoplegia disappeared, but other symptoms remained. Five months after onset, MR imaging disclosed lesions confined to the spinal posterior column, which were considered to result from involvement of posterior nerve roots of the cauda equina and to be responsible for his remaining severe ataxia.
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keywords = nerve
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10/14. GALOP syndrome: case report with 7-year follow-up.

    An elderly woman complaining of a gait disorder was found to have the GALOP syndrome (gait ataxia, late-onset polyneuropathy). She exhibited mild distal weakness and sensory loss in the legs, a positive Romberg, and an unsteady gait. serum immunofixation disclosed a monoclonal IgM-kappa protein. There was specific IgM binding to galopin, a central nervous system white matter antigen. Periodic treatment with intravenous immunoglobulin has alleviated her neurologic symptoms. She has now been followed for 7 years and maintained significant improvement in neurologic symptoms and signs.
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keywords = nervous system, neuropathy
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