1/9. 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.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/9. 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.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
3/9. 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.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
4/9. 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.- - - - - - - - - - ranking = 0.098732842722113keywords = malformation (Clic here for more details about this article) |
5/9. A juvenile case of cerebellar arteriovenous malformation (AVM) with gradual onset of headache and ataxia.An 11-year-old male was admitted because of frequent vomiting and truncal ataxia which had lasted for over one week. He had clear consciousness but slowly-progressive mild headache and ataxic gait. Cranial CT revealed a 4 cm hematoma in the right cerebellar hemisphere. angiography showed a 2 x 2 cm nidus of a pial arteriovenous malformation (AVM) in the right hemisphere fed from the right posterior inferior cerebellar artery and draining into the inferior hemispheric vein. We performed a surgical resection of the AVM after decompression therapy to counteract the brain edema. He recovered completely without any neurological deficits. This case suggests that cerebellar hemorrhage caused by AVM should be considered as a possible diagnosis when mild symptoms of headache and ataxia proceed gradually.- - - - - - - - - - ranking = 0.49366421361056keywords = malformation (Clic here for more details about this article) |
6/9. 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.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
7/9. Methyl bromide intoxication causes reversible symmetric brainstem and cerebellar MRI lesions.Methyl bromide is toxic to the central and peripheral nervous systems. A patient with occupational exposure to this agent is described. MRI showed strikingly symmetric brainstem and cerebellar lesions. The patient's clinical course and the topography and resolution of his MRI abnormalities suggest that this condition is an energy deprivation syndrome.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
8/9. X-linked adrenoleukodystrophy with olivopontocerebellar atrophy.X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder characterized by adrenal, gonadal and nervous system dysfunction. patients usually develop spinal cord degeneration with involvement of the cerebral white matter. While a spinocerebellar variant has been described, the selective involvement of cerebellar white matter is very rare. We report the case of a patient affected by X-ALD whose clinical and magnetic resonance imaging (MRI) results resembled olivopontocerebellar atrophy. He was a 29-year-old mentally retarded man, who began to complain of slowly progressive gait ataxia after an 8-year history of Addison's disease. Serial MRI revealed marked cerebellar atrophy involving the inferior cerebellar vermis and brainstem, but sparing the supratentorial white matter. The diagnosis of X-ALD was confirmed by elevated levels of very long-chain fatty acids in the serum. After 2 years follow-up, the patient developed spastic paraparesis. The patient represents an unusual clinical presentation of X-ALD, as further confirmed by the MRI results. Consequently, cerebellar symptoms should be considered as a clinical presentation of X-ALD. Early recognition of this rare disorder would be useful for genetic counselling and therapy.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
9/9. Acute oculomotor impairment with anti-GQ1b IgG due to central nervous system dysfunction.We report the case of a patient with isolated central oculomotor impairment and anti-GQ1b antibody. The patient was referred to us with acute vertical diplopia. The neurological examination revealed right internuclear ophthalmoplegia (INO), skew deviation and mild gait ataxia. Extensive laboratory analyses, CSF study, multimodal evoked potentials and brain MRI were normal. eye movement recording showed saccade dysmetria in addition to the INO. The subjective visual vertical was abnormally tilted to the left. The anti-GQ1b IgG antibody was detectable on serum DOT-BLOT. The brainstem and cerebellar features of the oculomotor impairment suggested that in our patient the anti-GQ1b IgG antibody showed a preferential cross-reaction with central nervous system epitopes. This finding is at variance with previous reports on anti-GQ1b syndrome with acute ophthalmoplegia, all of which argue for a localization of GQ1b epitopes within the peripheral nervous system, even though, in the light of the description of the ocular motor disorder, a central involvement might have co-occurred in this case.- - - - - - - - - - ranking = 6keywords = nervous system (Clic here for more details about this article) |