MRI Findings in Spinocerebellar Ataxias

نویسندگان

  • Younhee Kim
  • Madoka Kondo
  • Yoko Sunami
  • Akihiro Kawata
  • Takashi Komori
  • Kiyomitsu Oyanagi
  • Imaharu Nakano
  • Reiji Koide
چکیده

The recent advances in genetic analysis have facilitated the classification of autosomal dominant or recessive spinocerebellar ataxia. Although differential diagnosis of spinocerebellar ataxia is clinically very complicated, MRI characteristics may be an important tool for diagnosis. In the present review article, we summarize the skills of neuroradiology for a diagnosis of various types of spinocerebellar ataxia.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

C Spinocerebellar ataxias : an upd ate

Purpose of review Here we discuss recent advances regarding the molecular genetic basis of dominantly inherited ataxias. Recent findings Important recent observations include insights into the mechanisms by which expanded polyglutamine causes cerebellar degeneration; new findings regarding how noncoding expansions may cause disease; the discovery that conventional (i.e. nonrepeat) mutations und...

متن کامل

MR Imaging in Spinocerebellar Ataxias: A Systematic Review.

BACKGROUND AND PURPOSE Polyglutamine expansion spinocerebellar ataxias are autosomal dominant slowly progressive neurodegenerative diseases with no current treatment. MR imaging is the best-studied surrogate biomarker candidate for polyglutamine expansion spinocerebellar ataxias, though with conflicting results. We aimed to review quantitative central nervous system MR imaging technique finding...

متن کامل

Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families

OBJECTIVE Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS We studied 150 patients from 104 families with spino...

متن کامل

Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature

The dominantly-inherited ataxias characterised by expanded polyglutamine tracts-spinocere bellar ataxias (SCAs) 1, 2, 3, 6, 7, 17, dentatorubral pallidoluysian atrophy (DRPLA) and, in part, SCA 8-have all been shown to result in various degrees of cognitive impairment. We survey the literature on the cognitive consequences of each disorder, attempting correlation with their published neuropatho...

متن کامل

MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hype...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2014