神经性蜡样脂褐质病11 （CLN11）表现为早发性锥杆营养不良和学习困难。

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2025-01-15 DOI:10.1007/s10048-025-00800-3

Gustavo Maximiano-Alves, Renata do Amaral Moreto Caravelas, Trajano Aguiar Pires Gonçalves, Kelvin Ferrari Corniani, Júlio Cesar Nather, Camila Vasconcelos Geraldi-Tomaselli, Rodrigo Siqueira Soares Frezatti, Regina Maria França Fernandes, Antônio Carlos Dos Santos, Wilson Marques, Pedro José Tomaselli

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引用次数: 0

摘要

神经细胞类色素沉着病 11（CLN11）是成人发病型神经细胞类色素沉着病的一种超罕见亚型。其表型多变，尚不完全清楚。我们的神经遗传门诊对一名 21 岁的男性患者进行了评估，该患者早发表型复杂，包括学习困难、小脑共济失调、锥杆营养不良、癫痫和肌张力障碍。患者接受了神经学和神经心理学评估、神经眼科检查、脑磁共振成像、脑电图和全外显子组测序。结果发现了一个同基因框移变异体（NM_002087.4：c.768_769dup; p.Gln257Profs*27）。与本病例一样，不同的类型描述增加了该病的临床范围。

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Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.

Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia. The patient was submitted to neurological and neuropsychological assessment, neuro-ophthalmological tests, brain MRI, EEG and whole exome sequencing. A homozygous frameshift variant (NM_002087.4: c.768_769dup; p.Gln257Profs*27) was found. Distinct type descriptions, as in this case, increase the clinical spectrum of the disease.

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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.