본문 바로가기
KERD
논문KCI 등재

기억장애가 유일한 임상양상으로 확인된 척수소뇌실조 2형 1예

Spinocerebellar Ataxia Type 2 (SCA2) with Only Clinical Feature of Memory Impairment: Case Report

2

조회

0

다운로드

0

인용

0

참고문헌

키워드

주제분류신경과학

초록

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. There are more than 35 different types of spinocerebellar ataxias, each caused by a different genetic mutation. Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. The age at onset varies from 3 to 79 years (mean 33). Usually, the first symptom of the disease is the gait ataxia, followed by the cerebellar dysarthria. Of late, other clinical manifestations of SCA2 are the cognitive dysfunctions, which include frontal executive impairment, verbal short-term memory deficits as well as reduction of attention and concentration. We report a 56-year old woman identified as spinocerebellar ataxia type 2 (SCA2) with only clinical feature of memory impairment.

Abstract

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. There are more than 35 different types of spinocerebellar ataxias, each caused by a different genetic mutation. Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. The age at onset varies from 3 to 79 years (mean 33). Usually, the first symptom of the disease is the gait ataxia, followed by the cerebellar dysarthria. Of late, other clinical manifestations of SCA2 are the cognitive dysfunctions, which include frontal executive impairment, verbal short-term memory deficits as well as reduction of attention and concentration. We report a 56-year old woman identified as spinocerebellar ataxia type 2 (SCA2) with only clinical feature of memory impairment.

참고문헌 (10)

  1. McMurtray AM, "Depressive and Memory Symptoms as Presenting Features of Spinocerebellar Ataxia", J Neuropsychiatry Clin Neurosci, 18, pp.420~422 (2006)
  2. Orozco DG, "Autosomal domi-nant cerebellar ataxia: clinical analysis of 263 patients from a homogenous population in Holguin, Cuba", Neurology, 40, pp.1369~1375 (1990)
  3. Schols L, "Spinocerebellar ataxia type 2 : genotype and phenotype in German kindreds", Arch Neurol, 54, pp.1073~1080 (1997)
  4. Harding AE, "The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of the ‘the Drew family of Walworth", Brain, 105, pp.1~28 (1982)
  5. Pulst SM, "Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2", Nat Genet, 14, pp.269~276 (1996)
  6. 강연욱, "K-MMSE(Korean-Mini Mental State Examination)의 노인 규준 연구", 한국심리학회지:일반, 25(2), pp.1~12 (2006), 한국심리학회
  7. Kang YW, "Seoul neuropsychological screening battery" (2003), Human Brain Research & Consulting Co
  8. Teive HAG, "Cognitive dysfunction in spinocerebellar ataxias", Dement Neuropsychol, 3, pp.180~187 (2009)
  9. Schmahmann JD, "Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome", J Neuropsychiatry Clin Neurosci, 16, pp.367~378 (2004)
  10. 양영순, "Akinetic Mutism and Cognitive-Affective Syndrome Caused by Unilateral PICA Infarction", Journal of Clinical Neurology, 3(4), pp.192~196 (2007), 대한신경과학회

관련 논문AI추천

이 간행물의 다른 논문 (4건)