Autopsy case of spinocerebellar ataxia type 31 with severe dementia at the terminal stage-Reference-Cited by-同舟云学术

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Autopsy case of spinocerebellar ataxia type 31 with severe dementia at the terminal stage

Published:2014-12-11 Issue:3 Volume:35 Page:273-279
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Adachi Tadashi¹,Kitayama Michio¹,Nakano Toshiya¹,Adachi Yoshiki²,Kato Shinsuke³,Nakashima Kenji¹

Affiliation:

1. Division of Neurology; Department of Brain and Neurosciences; Faculty of Medicine; Tottori University; Yonago Japan

2. Department of Neurology; National Hospital Organization Matsue Medical Center; Matsue Japan

3. Department of Neuropathology; Faculty of Medicine; Tottori University; Yonago Japan

Publisher

Wiley

Subject

Clinical Neurology,General Medicine,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/neup.12184/fullpdf

Reference21 articles.

1. Spinocerebellar ataxia type 31 is associated with “inserted” penta-nucleotide repeats containing (TGGAA)n;Sato;Am J Hum Genet,2009

2. Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians;Ishikawa;Neurology,2011

3. Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population;Nozaki;Mov Disord,2007

4. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains;Ishikawa;Am J Hum Genet,2005

5. Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia: an autopsy case report with some new observations on cerebellar pathology;Shintaku;Neuropathology,2009

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1. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report;Acta Neuropathologica Communications;2023-08-11

2. A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias;The Cerebellum;2023-03-31

3. Spinocerebellar ataxia type 31: A clinical and radiological literature review;Journal of the Neurological Sciences;2023-01

4. Simple and clear differentiation of spinocerebellar degenerations: Overview of macroscopic and low‐power view findings;Neuropathology;2022-07-20

5. Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22;Frontiers in Molecular Neuroscience;2022-06-23

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