成人发病型神经细胞类色素沉着病：表现为局灶性肌张力障碍的CLN5变异型。

IF 2.5 Q2 CLINICAL NEUROLOGY Tremor and Other Hyperkinetic Movements Pub Date : 2024-11-04 eCollection Date: 2024-01-01 DOI:10.5334/tohm.941

Karri Madhavi, Rukmini Mridula Kandadai, Sruthi Kola, Rupam Borgohain, Rajesh Alugolu, Vvsrk Prasad, Bevinahalli N Nandeesh, Periyasamy Govindaraj

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摘要

背景：神经细胞类脂膜脂质沉着病（NCL）是一种罕见的遗传性溶酶体储积症，可导致神经元缺失和进行性神经变性。CLN变体会导致不同的表型表现：病例报告：一名 49 岁的男性患者在成年晚期出现进行性局灶性右下肢肌张力障碍。影像学检查显示小脑萎缩，基因检测显示 CLN5 变异阳性（c.826T > C; p.Phe276 Leu），但意义不确定。皮肤活检提示为 NCL，这使我们认为该变异体具有致病性，从而导致了新的表型表现：结论：孤立性局灶性肌张力障碍作为ANCL的初始表现尚未见报道。为了更好地管理和预后，建议尽早进行基因检测并定期进行临床评估。

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Adult-Onset Neuronal Ceroid Lipofuscinosis: CLN5 Variant Presenting as Focal Dystonia.

Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. CLN variants cause varied phenotypic presentations.

Case report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia. Imaging showed cerebellar atrophy, and genetic testing was positive for the CLN5 variant (c.826T > C; p.Phe276 Leu) with uncertain significance. Skin biopsy suggested NCL, which made us consider the variant pathogenic, leading to novel phenotypic presentation.

Conclusion: Isolated focal dystonia has not been reported as an initial presentation in ANCL. Early genetic testing and periodic clinical assessments are advisable for better management and prognostication.

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