Rudenskaya G E, Konovalov F A, Illarioshkin S N, Shchagina O A
Research Centre for Medical Genetics, Moscow, Russia.
Genomed Ltd, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2023;123(2):138-143. doi: 10.17116/jnevro2023123021138.
Gerstmann-Sträussler disease (GSD) is a very rare autosomal dominant late-onset neurodegenerative disorder related to prion protein gene . Mutation p.Pro102Leu produces about 80% of cases, which are often named GSD-102. DNA testing provides exact diagnosis. In the presented Russian family there were 3 patients: a female index case, age 32 years, her brother, age 37 years (age of onset in both is 27 years) and their deceased father (onset in 35 years, death in 44 years). GSD was not suspected until whole exome sequencing in the female detected mutation p.Pro102Leu confirmed in her and in the brother by Sanger sequencing. Atypical features of the case are: early onset in siblings, absence of mental and behavioral problems in the female and in the father and mild disturbances in the brother; epilepsy in the brother; atypical onset with transient signs in the brother. Other intrafamilial differences are prevailing spastic paraparesis in the female in contrast to predominant ataxia in the brother and dysarthria absence in the female. The case illustrates GSD-102 variability, complicating clinical diagnostics.
格斯特曼-施特劳斯勒病（GSD）是一种非常罕见的常染色体显性迟发性神经退行性疾病，与朊蛋白基因有关。p.Pro102Leu突变导致约80%的病例，这些病例通常被称为GSD-102。DNA检测可提供确切诊断。在这个俄罗斯家庭中，有3名患者：一名32岁的女性索引病例，她37岁的哥哥（两人发病年龄均为27岁）以及他们已故的父亲（35岁发病，44岁去世）。在对该女性进行全外显子测序检测到p.Pro102Leu突变，并通过桑格测序在她和她哥哥身上得到证实之前，并未怀疑患有GSD。该病例的非典型特征包括：兄弟姐妹发病早，女性和父亲无精神和行为问题，哥哥有轻度障碍；哥哥患有癫痫；哥哥有非典型发病且伴有短暂症状。家族内的其他差异包括女性以痉挛性截瘫为主，而哥哥以共济失调为主，且女性无构音障碍。该病例说明了GSD-102的变异性，使临床诊断变得复杂。
