1/22. 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 = ms (Clic here for more details about this article) |
2/22. 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 = 0.16666666666667keywords = ms (Clic here for more details about this article) |
3/22. 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 = 0.16666666666667keywords = ms (Clic here for more details about this article) |
4/22. 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 = 0.5keywords = ms (Clic here for more details about this article) |
5/22. 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 = 0.16666666666667keywords = ms (Clic here for more details about this article) |
6/22. 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 = 0.16666666666667keywords = ms (Clic here for more details about this article) |
7/22. paraneoplastic cerebellar degeneration and nephrotic syndrome preceding Hodgkin's disease: case report and review of the literature.A patient presented with symptoms of cerebellar degeneration and nephrotic syndrome. A work-up at that time failed to reveal an underlying disease; however, 20 months later Hodgkin's disease was diagnosed. Hodgkin's lymphadenopathy developed 2 wk after prednisone therapy for the nephrotic syndrome had been discontinued. Systemic polychemotherapy resulted in complete remission of both Hodgkin's disease and nephrotic syndrome, while the neurological deficit persisted. patients with unexplained cerebellar degeneration and/or nephrotic syndrome demand extensive evaluation for the presence of Hodgkin's disease, and steroid therapy may delay diagnosis.- - - - - - - - - - ranking = 0.16666666666667keywords = ms (Clic here for more details about this article) |
8/22. Acute cerebellar ataxia in a toddler: case report and literature review.Acute cerebellar ataxia (ACA) is an inflammatory CNS disease that is characterized by rapid onset of ataxia in a child under 6 years of age. Symptoms typically occur in association with a relatively benign viral illness and have been reported after vaccination as well. Immunological studies suggest that both involve autoimmune destruction of axon tracts, with pathological and radiographic evidence of a link with multiple sclerosis. The emergency approach should be focused on excluding more significant illnesses, such as meningitis or an intracranial mass lesion. Here we present a case of a young girl with ACA and review the relevant literature.- - - - - - - - - - ranking = 236.3243956638keywords = multiple sclerosis, sclerosis, ms (Clic here for more details about this article) |
9/22. 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 = 0.16666666666667keywords = ms (Clic here for more details about this article) |
10/22. Capecitabine-related neurotoxicity presenting as trismus.Capecitabine is an oral fluoropyrimidine used for cancer treatment. It is generally well tolerated. A patient who had previously received adjuvant 5-fluorouracil without neurotoxicity had a severe adverse reaction when later given capecitabine in the metastatic setting. She presented with the acute onset of neuromuscular symptoms, the most prominent being trismus but also including slurred speech, confusion, gait abnormalities, and ocular changes. Her symptoms completely resolved with discontinuation of capecitabine.- - - - - - - - - - ranking = 0.33333333333333keywords = ms (Clic here for more details about this article) |
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