A Case of Spinocerebellar Ataxia Type 6 with Its Initial Symptom of Episodic Ataxia-like Phenotype
|
Accession number;06A0103399
|
| Title;A Case of Spinocerebellar Ataxia Type 6 with Its Initial Symptom of Episodic Ataxia-like Phenotype |
| Author;
SHIMAZAKI HARUO
(Jichi Medical School, Dep. Medicine, JPN)
NAKAO KOICHI
(Jichi Medical School, Dep. Medicine, JPN)
ISHIKAWA KIN'YA
(Tokyo Medical and Dental Univ. Gaduate School, JPN)
TAKIYAMA YOSHIHISA
(Jichi Medical School, Dep. Medicine, JPN)
NAKANO IMAHARU
(Jichi Medical School, Dep. Medicine, JPN)
|
Journal Title;Brain Nerve
|
Journal Code:Z0685A
|
ISSN:0006-8969
|
|
VOL.58;NO.1;PAGE.63-67(2006)
|
| Figure&Table&Reference;FIG.2, TBL.1, REF.22 |
| Pub. Country;Japan |
| Language;Japanese |
| Abstract;We reported a Japanese case of spinocerebellar ataxia type 6 (SCA6) with episodic ataxia type 2 (EA2) phenotype. A 28-year-old woman was admitted to our hospital because of episodic unsteadiness of gait and dysarthria for 4 years. Neurological examination revealed truncal ataxia and dysarthria during attacks, but no abnormal findings in interictal phases. A brain MRI showed no obvious cerebellar atrophy, whereas proton MR spectroscopy ('1'H-MRS) disclosed decrease of the N-acetylaspartate/ceatine (NAA/Cr) ratio in the cerebellar hemisphere. We identified the expanded 22 CAG repeats without a missense mutation in the CACNA1A gene. After one year from the discharge, her gait ataxia became gradually obvious even in the interictal phase. To our knowledge, although a few foreign papers had reported the SCA6 cases with EA2 phenotype, there is no particular report on such cases in Japan. '1'H-MRS, in addition to CAG repeats analysis, might enable us to differentiate SCA6 from EA2, because the latter showed no decrease of NAA/Cr ratio in cerebellar hemisphere according to the previous reports. (author abst.) |
|
|
|
Related Articles;
|
|
|
