Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P10636 (tau protein)
 5,110 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a peculiar form of late onset paroxysmal cerebellar ataxia including clinical features similar to episodic ataxia type 2 (EA2) but unresponsive to acetazolamide. Four unrelated patients were clinically investigated. Neuropathological examination was performed in one patient and molecular analysis in all four. All 47 exons of CACNA1A were screened by a combination of single-strand conformer polymorphism and sequencing analysis in three patients. In addition, the length of the CAG repeat was determined in all four patients. The four patients were in their 60s at the onset of the disease, which was characterized by cerebellar ataxia attacks lasting from a few minutes to 1-2 h and occurring mainly in the morning. In the interictal period a nystagmus was present together with a slowly progressive cerebellar ataxia over the years. The neuropathological examination disclosed a dramatic loss of Purkinje cells mainly in the vermis. Moreover, certain cerebellar granular neurons had a strong cytoplasmic staining at immunopathological examination with an anti-tau protein serum. Search for truncating mutations or CAG repeat expansion in CACNA1A was negative. This late-onset paroxysmal cerebellar ataxia with neuropathological lesions restricted to Purkinje cells and with negative results both for truncating mutations and CAG expansion in the CACNA1A gene represents a new entity. Further studies are needed to delineate the underlying process.
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PMID:Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease? 1262 85

BACKGROUND Creutzfeldt-Jakob disease (CJD) is a human prion disease characterized by severe and rapidly progressive fatal neurodegeneration. Currently, there is no cure for CJD, and death from CJD usually occurs within 1 year from the onset of the symptom, and the median survival time is 6 months. CASE REPORT The patient was a 63-year-old woman who presented to the hospital reporting having vertigo for the past 1 week and involuntary muscle contraction resulting in slow repetitive movement and abnormal posture for the past 3 days. A physical examination at the time of admission revealed unsteady gait, dystonia, and dysmetria of the left upper limb. There was no nystagmus on examination. Electroencephalography done on the same day showed focal epileptiform discharge on bilateral temporal lobes, which were more on the right side than the left. It also showed mild diffuse cerebral slowing. Cerebrospinal fluid analysis showed positive for RT-QulC, T tau protein, and 14-3-3. A diagnosis of CJD was made based on clinical course, imaging, and cerebrospinal fluid analysis. CONCLUSIONS The diagnosis of CJD can be suspected based on clinical signs and symptoms and can be confirmed after performing MRI, EEG, and lumbar puncture. Therefore, it is important to recognize vertigo as an unspecific symptom of CJD so that a timely diagnosis can be made and unnecessary procedures can be avoided.
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PMID:Cerebellar Vertigo as an Unspecific Initial Presentation of Creutzfeldt-Jakob Disease. 3322 15