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新型 SPTBN2 基因突变及 5 型早发性脊髓小脑共济失调的首个基因内缺失

Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.

机构信息

Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.

Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.

出版信息

Ann Clin Transl Neurol. 2021 Apr;8(4):956-963. doi: 10.1002/acn3.51345. Epub 2021 Mar 23.

DOI:10.1002/acn3.51345
PMID:33756041
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8045899/
Abstract

In the present study, we describe two novel cases of SCA5 with early onset. The first one, carrying a novel heterozygous de novo missense mutation in SPTBN2 gene, showed a striking very severe cerebellar atrophy and reduction of volume of the pons at a very young age (16 months). The latter, carrying the first de novo intragenic deletion so far reported in SPTBN2 gene, showed a mild cerebellar atrophy involving the hemispheres and a later onset. In both cases, for the first time, a hyperintense signal of the dentate nuclei was observed.

摘要

在本研究中，我们描述了两例具有早发性的 SCA5 新病例。第一个病例携带 SPTBN2 基因的新型杂合性新生错义突变，在非常年幼时（16 个月）表现出显著的非常严重的小脑萎缩和脑桥体积减少。后者携带 SPTBN2 基因中迄今为止报道的首例新生内含子缺失，表现为轻度小脑萎缩，累及半球，发病较晚。在这两种情况下，首次观察到齿状核的高信号。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/547f/8045899/1ede9c52bd1a/ACN3-8-956-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/547f/8045899/fd9c359f1b37/ACN3-8-956-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/547f/8045899/eecadf95b0a9/ACN3-8-956-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/547f/8045899/1ede9c52bd1a/ACN3-8-956-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/547f/8045899/fd9c359f1b37/ACN3-8-956-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/547f/8045899/eecadf95b0a9/ACN3-8-956-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/547f/8045899/1ede9c52bd1a/ACN3-8-956-g002.jpg

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