A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
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DOI：
10.3233/jad-141512
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发表时间：
2015
期刊：
影响因子：
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通讯作者：
Vercelletto M
中科院分区：
文献类型：
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作者：
Boutoleau-Bretonnière C;Camuzat A;Le Ber I;Bouya-Ahmed K;Guerreiro R;Deruet AL;Evrard C;Bras J;Lamy E;Auffray-Calvier E;Pallardy A;Hardy J;Brice A;Derkinderen P;Vercelletto M
编码p62蛋白的SQSTM 1突变被鉴定为骨佩吉特病和肌萎缩侧索硬化症的单基因病因。最近，在少数额颞叶痴呆家族中发现了SQSTM 1突变。我们报告了一个新的家族携带SQSTM 1突变，并提出了一个临床表型的言语失用症或非典型行为障碍，与早期视觉结构缺陷。这项研究进一步支持了SQSTM 1在额颞叶痴呆中的意义，并扩大了与SQSTM 1突变相关的表型谱。
SQSTM1 mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. More recently, SQSTM1 mutations were identified in few families with frontotemporal dementia. We report a new family carrying SQSTM1 mutation and presenting with a clinical phenotype of speech apraxia or atypical behavioral disorders, associated with early visuo-contructional deficits. This study further supports the implication of SQSTM1 in frontotemporal dementia, and enlarges the phenotypic spectrum associated with SQSTM1 mutations.