1/121. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.OBJECTIVE: To search for mutations in the calcium channel gene CACNA1A and to study the genotype-phenotype correlation in a family with a severe familial hemiplegic migraine (FHM) phenotype and a slowly progressive cerebellar ataxia. BACKGROUND: CACNA1A gene mutations on chromosome 19 are involved in approximately 50% of FHM families. The association of FHM and cerebellar ataxia has been reported in a small number of FHM families, all linked to chromosome 19. methods: The proband, in addition to typical hemiplegic migraine attacks, experienced severe episodes during which hemiplegia was associated with acutely altered consciousness and fever lasting several days. She, as well as her affected sister, developed a permanent, late-onset cerebellar ataxia and cerebellar atrophy evident on MRI. Linkage analysis was performed and the whole CACNA1A gene, 47 exon-intron boundaries, was analyzed by double gradient-denaturing gradient gel electrophoresis (DG-DGGE). RESULTS: Genetic studies suggested linkage to chromosome 19p13, and DG-DGGE analysis detected a heteroduplex fragment in exon 13 of the CACNA1A gene. By direct sequencing, a G-to-A substitution resulting in an arginine to glutamine change at codon 583 in the second putative voltage sensor domain of the channel alpha1A-subunit, was identified, possibly representing the disease-causing mutation. The proband and her affected sister were treated with acetazolamide, reporting freedom from new FHM attacks but no benefit in the progression of ataxia. CONCLUSIONS: The combination of episodic dysfunction and permanent deficit could depend on the variety of functions of calcium channels and their distribution in the nervous system.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/121. Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease.We describe a patient with an unusual clinical presentation of progressive multiple cranial nerve palsies, cerebellar ataxia, and palatal tremor (PT) resulting from an unknown etiology. magnetic resonance imaging showed evidence of hypertrophy of the inferior olivary nuclei, brain stem atrophy, and marked cerebellar atrophy. This combination of progressive multiple cranial nerve palsies, cerebellar ataxia, and PT has never been reported in the literature. We have also reviewed the literature of PT secondary to neurodegenerative causes. In a total of 23 patients, the common causes are sporadic olivopontocerebellar atrophy (OPCA; 22%), Alexander's disease (22%), unknown etiology (43.4%), and occasionally progressive supranuclear palsy (4.3%) and spinocerebellar degeneration (4.3%). Most patients present with progressive cerebellar ataxia and approximately two thirds of them have rhythmic tremors elsewhere. ear clicks are observed in 13% and evidence of hypertrophy of the inferior olivary nucleus in 25% of the patients. The common neurodegenerative causes of PT are OPCA/multiple system atrophy, Alexander's disease, and, in most of them, the result of an unknown cause.- - - - - - - - - - ranking = 1.2277816505671keywords = brain (Clic here for more details about this article) |
3/121. A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma.We report a familial case of hereditary ceruloplasmin deficiency (HCD) showing an A-G transition in intron 6 of the ceruloplasmin gene. Clinical features consisted of chorea, cerebellar ataxia, dementia, diabetes mellitus, retinal pigmentation and iron deposition in the liver and brain without copper overload in those organs. The patient's children and siblings had similar laboratory results, but did not show any neurological abnormalities. She was medicated for diabetes mellitus at 43 years of age, and neurological signs appeared when she was 52 years old. The laboratory findings were anemia, low concentrations of iron and copper in serum and of copper in urine. ceruloplasmin was not detected in the serum. The iron and copper contents in the liver were 3,580 and 10 microg/g wet tissue, respectively. MRI of the brain showed iron deposition in the basal ganglia, dentate nucleus and thalamus. This case did not show any abnormal increase in copper in the blood and urine following CuSO(4)5H(2)O oral overloading test. Following the intravenous administration of commercially available fresh-frozen human plasma (FFP) containing ceruloplasmin, the serum iron content increased for several hours due to ferroxidase activity of ceruloplasmin. In the liver, the iron content decreased more with the combined intravenous administration of FFP and deferoxamine than with FFP administration alone. Her neurological symptoms improved following repetitive FFP treatment.- - - - - - - - - - ranking = 7.3666899034027keywords = brain (Clic here for more details about this article) |
4/121. Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody.Autosomal dominant cerebellar ataxias (ADCAs) are a complex group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. The spinocerebellar ataxia type 7 (SCA7) is associated with pigmentary macular dystrophy and retinal degeneration leading to blindness caused by a CAG/polyglutamine (polyGln) expansion in the coding region of the SCA7 gene/protein. The SCA7 gene codes for ataxin-7, a protein of unknown function. To investigate its cellular and subcellular localization, we have developed a sequence-specific polyclonal antibody against the N-terminal part of the protein. Immunohistochemical analysis indicated that ataxin-7 accumulates as single nuclear inclusion (NI) in the cells of the brain and retina of a SCA7 patient but not of controls. The 1C2 antibody, directed against expanded polyGln, confirmed the aggregation of mutant ataxin-7 in these NIs. Furthermore, ubiquitin was found in these aggregates, suggesting that mutant ataxin-7 is a target for ubiquitin-dependent proteolysis, but resistant to removal. Electron microscopic studies using immunogold labeling showed that ataxin-7 immunoreactive NIs appear as dense aggregates containing a mixture of granular and filamentary structures. Together, these data confirm the presence of NIs in brain and retina of a SCA7 patient, a common characteristic of disorders caused by expanded CAG/polyGln repeats.- - - - - - - - - - ranking = 8.5944715539698keywords = brain (Clic here for more details about this article) |
5/121. syndrome of progressive ataxia and palatal myoclonus: a case report.A 46-year old man presented with progressive cerebellar ataxia for 5 years. physical examination revealed palatal and tongue myoclonus, cerebellar gait, limb ataxia and spasticity of the lower extremities. The imaging studies including CT-scan and MRI of the brain revealed progressive pancerebellar atrophy and bilateral hypertrophic degeneration of inferior olives. The clinical course was slowly progressive. Various medications included anticonvulsants, benzodiazepines and antispasticity failed to abolish the abnormal palatal movement and ataxic syndrome. The syndrome of progressive ataxia and palatal myoclonus is a rare and unique neurodegenerative syndrome. The pathogenesis and treatment are still unknown.- - - - - - - - - - ranking = 1.2277816505671keywords = brain (Clic here for more details about this article) |
6/121. Isolated cerebellar involvement in Rosai-Dorfman disease: case report.OBJECTIVE AND IMPORTANCE: Sinus histiocytosis or Rosai-Dorfman disease (RDD) is a rare but well-recognized disorder characterized by an unusual proliferation of histiocytic cells. Intracranial localization is a rare manifestation of RDD. Only three cases of localization in the posterior fossa have been reported in the literature. The present report describes the first case, to our knowledge, of cerebellar localization of RDD. CLINICAL PRESENTATION: A 67-year-old woman was admitted to our institution with a 5-month history of cerebellar ataxia. Her medical history was unremarkable. The patient was alert and cooperative. No cranial nerve deficits were evident; Romberg positivity to the left side was recorded. No cutaneous abnormalities, lymphadenopathy, or hepatosplenomegaly were revealed by physical examination. Routine hematological and biochemical studies were normal except for the erythrocyte sedimentation rate, which was elevated. Radiologically, the lesion appeared as a well-defined and avascular mass in the right cerebellar lobe. meningioma was considered the most likely diagnosis. TECHNIQUE: The patient underwent a suboccipital craniotomy with complete excision of the lesion. Microscopic examination of the operative specimen revealed the presence of a mixed cellular population with predominant mature histiocytes. A peculiar feature was the presence of lymphocytes and monocytes within the cytoplasm of histiocytes (emperipolesis). Immunohistochemical study of the histiocytes revealed strong positivity for S-100, CD-68 antigen, and vimentin. CONCLUSION: Involvement of the central nervous system in RDD appears to have a benign prognosis, especially in the absence of nodal diseases. Surgery is essential for diagnosis, and, when total removal is achieved, the outcome is generally good without risk of recurrence.- - - - - - - - - - ranking = 3.822378112574keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/121. Acute cerebellar ataxia of a patient with SLE.We described a 28-year-old woman with systemic lupus erythematosus (SLE) presented with digestive tract, skin and renal symptoms and afterwards developed acute cerebellar ataxia, a paresis of the right inferior rectus muscle, left abducens paralysis and left facial palsy which seemed to be consistent with a brainstem lesion visible on magnetic resonance imaging (MRI). This lesion disappeared within 9 days of corticosteroid treatment. It is suggested that this lesion is focal edema induced by acute changes in the blood brain barrier secondary to a vasculopathy. Other causes, including local infarction, are unlikely.- - - - - - - - - - ranking = 2.4555633011342keywords = brain (Clic here for more details about this article) |
8/121. radiation-induced rhombencephalopathy.We report the case of a patient who underwent radiotherapy of the neck because of an epidermoid carcinoma in Rosenmuller's fossa. Eleven months later, T1-weighted brain magnetic resonance imaging (MRI) revealed a bulbo-pontine lesion, and the clinical course and sequential MRI results led to a diagnosis of radionecrosis-induced rhombencephalopathy. At a distance of more than three years, the lesion is no longer visible on MRI images but the severe neurological deficits remain. The clinical picture has not been improved by treatment with prednisone, hyperbaric oxygen, symptomatic therapies or anticoagulants.- - - - - - - - - - ranking = 1.2277816505671keywords = brain (Clic here for more details about this article) |
9/121. A new familial adult-onset leukodystrophy manifesting as cerebellar ataxia and dementia.BACKGROUND: Among hereditary leukodystrophies, a considerable number remain unclassified. patients AND RESULTS: We investigated the clinical course and histopathology of one patient in a family of adult-onset leukodystrophy with possible dominant inheritance. A 44-year-old man presented with cerebellar ataxia as the initial symptom, and later, dementia and hyperreflexia with ankle clonus developed. T2-weighted brain MRI showed brain atrophy and diffuse high signal intensity of the cerebral white matter and the brain stem. The patient's mother and older brother also had cerebellar ataxia and dementia, and his older brother had been diagnosed as having spinocerebellar degeneration. An older sister of our patient possibly had similar neurological symptoms of adult-onset. Our patient died of pneumonia 5 years after the onset of disease. The histopathological findings consisted mainly of patchily observed vacuolar changes in the cerebral and cerebellar white matter and the brain stem. The subcortical regions and the cortex were unaffected. It is suggested that the pathological changes began in the cerebellum, and later spread to the frontal lobe and the brain stem. In the occipital regions, the vacuolations were associated with accumulation of macrophages and astrocytosis, which implied that the vacuolations were of recent origin. CONCLUSIONS: The diagnosis in this patient is adult-onset leukodystrophy with possibly autosomal dominant inheritance. The clinicopathological features are different from those, of previously reported adult-onset leukodystrophies.- - - - - - - - - - ranking = 6.1389082528356keywords = brain (Clic here for more details about this article) |
10/121. Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype.Cerebellar hypoplasia may, at neuroimaging studies, be found in association with congenital muscular dystrophy (CMD), although it is an extremely rare occurrence. We here report on three CMD patients who underwent a longitudinal evaluation of clinical and neuroimaging features for a mean period of 18 years. Case 1, a 22-year-old woman, and cases 2 and 3, brothers aged 26 and 20 years, respectively, had presented a mild to moderate muscular weakness and increased serum creatine kinase (CK) levels since birth. All cases were diagnosed in the first years of life, with identification of evident dystrophic changes at muscle biopsy and moderate to severe cerebellar hypoplasia at brain computed tomography (CT) scan. Subsequently, all the patients underwent a second muscle biopsy, with immunostaining and immunoblot analysis, which showed normal values for merosin, dystrophin and dystrophin-related proteins. During the longitudinal study, the patients underwent repeated neurological and psychiatric examinations, serum CK controls, intellectual ability assessments and neuroimaging evaluations (CT and/or magnetic resonance imaging (MRI)). In all cases, these investigations indicated a mild to moderate deficit in the proximal muscles and a clear-cut cerebellar syndrome which, it was assumed, had been present since the first years. The patients also presented some intellectual difficulties, with an IQ of 0.69 in case 1, 0.83 in case 2 and 0.61 in case 3. The clinical course of all the patients was static, and all symptoms of the combined muscle and brain involvement persisted. Nor were any changes in the cerebellar hypoplasia observed at repeat MRIs. Findings obtained by us on the longitudinal study and a review of the literature indicate that cerebellar hypoplasia and merosin-positive CMD constitute a particular clinical phenotype, mainly characterized by an ataxic syndrome associated with a non-severe muscular involvement and a possible mild intellectual impairment.- - - - - - - - - - ranking = 2.4555633011342keywords = brain (Clic here for more details about this article) |
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