又有两个家族支持单基因脊髓小脑共济失调症的存在 48

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY Neurogenetics Pub Date : 2024-04-16 DOI:10.1007/s10048-024-00758-8

Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, Danara Ormanbekova, Isabelle Bacchi, Claudio Fiorini, Adelaide Peruzzi, Luca Morandi, Rocco Liguori, Valerio Carelli, Giovanni Rizzo

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引用次数: 0

摘要

TBP 中间等位基因的穿透性降低以及最近提出的 TBP/STUB1 二基因遗传的可能性，引起了人们对其中可能涉及的机制的质疑，从而引发了关于 SCA48 是否是一种单基因遗传疾病的争论。我们在此报告了两名携带相同 STUB1 变体（c.244G >T;p.Asp82Tyr）且 TBP 等位基因正常、临床表现完全类似 SCA48（包括小脑共济失调、构音障碍和轻度认知障碍）的明显无亲缘关系患者的临床和遗传结果。考虑到经典的 TBP 等位基因范围，本报告提供了支持性证据，证明这种特殊共济失调也可作为一种单基因疾病发生。

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Two more families supporting the existence of monogenic spinocerebellar ataxia 48

The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges.

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来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.