1/30. 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.- - - - - - - - - - ranking = 1keywords = ataxia (Clic here for more details about this article) |
2/30. 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 = ataxia (Clic here for more details about this article) |
3/30. 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 = ataxia (Clic here for more details about this article) |
4/30. vertigo and gait ataxia without usual signs of lateral medullary infarction: a clinical variant related to rostral-dorsolateral lesions.Isolated vertigo and ataxia have not been reported as manifestations of lateral medullary infarction. The author describes 3 patients with lateral medullary infarction who presented with almost isolated vertigo and gait ataxia without usual signs/symptoms of lateral medullary infarction such as facial/hemibody sensory changes, dysphagia, hoarseness, hiccup, limb ataxia, and Horner sign. brain MRI showed small infarcts selectively involving the most dorsolateral portion of the rostral medulla that corresponds to the vestibulocerebellar pathway. These patients illustrate that lateral medullary infarction may present as an isolated vertigo and gait ataxia. Clinicians should be aware of this clinical variant, because these patients may be misdiagnosed as having labyrinthine disorders.- - - - - - - - - - ranking = 8.0001701855291keywords = ataxia, variant (Clic here for more details about this article) |
5/30. A treatable cause of ataxia in children.An 11-year-old black male presenting with severe subacute sensory ataxia, unusual skin hyperpigmentation, megaloblastic anemia, low serum B12 levels, and an abnormal part I schilling test was diagnosed with pernicious anemia in the context of a polyglandular syndrome. intrinsic factor and thyroid microsomal antibodies were positive, and thyroid-stimulating hormone levels were undetectable. There was a strong familial aggregation because the mother, a maternal aunt, the maternal grandfather, and the maternal great-grandmother had been diagnosed with pernicious anemia, albeit of unspecified etiology. Spinal magnetic resonance imaging (MRI) demonstrated extensive demyelination of the posterior columns along the entire length of the cord, as well as areas of contrast enhancement. Treatment with cobalamin produced complete remission of the neurologic deficits and normalization of the MRI findings in the short space of 2 months. Although rare, childhood pernicious anemia is a treatable disease that should be included in the differential diagnosis of the sensory ataxias in children. In this article, we review the causes of pernicious anemia in children and discuss the MRI findings.- - - - - - - - - - ranking = 6keywords = ataxia (Clic here for more details about this article) |
6/30. paraneoplastic cerebellar degeneration as the first manifestation of cancer.paraneoplastic cerebellar degeneration (PCD) is a type of paraneoplastic syndrome that primarily affects women with gynecological cancers. patients typically experience pancerebellar symptoms, including gait ataxia, dysarthria, nystagmus, and truncal and appendicular ataxia. We present the case of a 50-year-old woman with PCD and presumed ovarian cancer who initially complained of ataxia and dysarthria. PCD was diagnosed on the basis of her symptoms, diagnostic imaging, and laboratory work. PCD symptoms may precede the diagnosis of malignancy by months or years. early diagnosis and treatment of these syndromes, including rehabilitation, may result in improvements in quality of life for this population of patients.- - - - - - - - - - ranking = 3keywords = ataxia (Clic here for more details about this article) |
7/30. 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 = 3keywords = ataxia (Clic here for more details about this article) |
8/30. 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.- - - - - - - - - - ranking = 11keywords = ataxia (Clic here for more details about this article) |
9/30. Metastatic brainstem tumor manifesting as hearing disturbance--case report.A 53-year-old male, who had undergone a left upper lung lobectomy for cancer 2 years previously, presented with metastatic brainstem tumor manifesting as hearing disturbance. At first an otorhinolaryngologist treated him for senile sensorineural hearing disturbance. However, he suffered gait ataxia and was referred to our department. On admission, neurological examination found mild cerebellar ataxia on the left and gait unsteadiness. Neurootological analysis revealed central-type sensorineural hearing disturbance on the left both in the pure tone audiogram and speech discrimination test. neuroimaging studies revealed a ring-like enhanced mass centered in the ventral left middle cerebellar peduncle, partly extending to the inferior cerebellar peduncle. Peritumoral edema extending to the ipsilateral cochlear nucleus was recognized. He underwent surgery via a left lateral suboccipital transcondylar approach. The histological diagnosis was adenocarcinoma identical with the primary lung cancer. Intra-axial brainstem metastatic lesion can be a cause of hearing disturbance, so should be included in the differential diagnosis for a patient complaining of hearing disturbance, especially with a past history of cancer.- - - - - - - - - - ranking = 2keywords = ataxia (Clic here for more details about this article) |
10/30. 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 = 13keywords = ataxia (Clic here for more details about this article) |
| | Next -> |