| A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis. | |
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MedLine Citation:
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PMID: 19443103 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe the clinical features of a patient with Gerstmann-Sträussler-Scheinker syndrome with a mutation in the prion protein gene at codon 105 (GSS105) who presented with ataxia. Neurologic examination showed memory disturbance, dysarthria, extrapyramidal signs (bradykinesia and resting tremor) and ataxic gait without spasticity. Although GSS105 has been referred to as "spastic paraparesis-type GSS", the patient did not show spastic paraparesis or pyramidal signs, even 11 years after the onset of symptoms. Thus, the spectrum of the GSS105 phenotype varies among patients and requires further clinicopathologic elucidation. |
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Authors:
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Yasushi Iwasaki; Mayuki Kizawa; Norio Hori; Tetsuyuki Kitamoto; Gen Sobue |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-05-13 |
Journal Detail:
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Title: Clinical neurology and neurosurgery Volume: 111 ISSN: 1872-6968 ISO Abbreviation: Clin Neurol Neurosurg Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-07-20 Completed Date: 2009-09-28 Revised Date: 2009-10-14 |
Medline Journal Info:
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Nlm Unique ID: 7502039 Medline TA: Clin Neurol Neurosurg Country: Netherlands |
Other Details:
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Languages: eng Pagination: 606-9 Citation Subset: IM |
Affiliation:
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Department of Neurology, Oyamada Memorial Spa Hospital, 5538-1 Yamada-cho, Yokkaichi 512-1111, Japan. iwasaki@sc4.so-net.ne.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Ataxia / etiology*, physiopathology Atrophy Basal Ganglia Diseases / etiology*, physiopathology Cerebral Ventricles / pathology Gait / physiology Gerstmann-Straussler-Scheinker Disease / genetics*, pathology Humans Magnetic Resonance Imaging Male Neurologic Examination Neuropsychological Tests Paraparesis, Spastic* Phenotype Prions / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Prions |
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