共济失调
脊髓小脑共济失调
舞蹈病
舞蹈病
进行性肌阵挛性癫痫
小脑共济失调
医学
三核苷酸重复扩增
肌阵挛
儿科
发病年龄
预测(人工智能)
肌张力障碍
萎缩
小脑
病理
疾病
精神科
内科学
生物
遗传学
等位基因
计算机科学
人工智能
基因
作者
Wladimir Bocca Vieira de Rezende Pinto,R. Salomao,Nathália Cabral Bergamasco,Gustavo da Cunha Ribas,Felipe Franco da Graça,Iscia Lopes‐Cendes,Luciana Cardoso Bonadia,Paulo Victor Sgobbi de Souza,Acary Souza Bullé Oliveira,Maria Luiza Saraiva‐Pereira,Laura Bannach Jardim,Vítor Tumas,Wilson Marques,Marcondes Cavalcante França,José Luiz Pedroso,Orlando Graziani Póvoas Barsottini,Hélio A.G. Teive
标识
DOI:10.1016/j.parkreldis.2021.10.004
摘要
Background Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia caused by pathological expansion of CAG trinucleotide repeats in the ATN1 gene. Most cases were described in patients from Japanese ancestry who presented with adult-onset progressive cerebellar ataxia associated with cognitive impairment, choreoathetosis and other movement disorders. DRPLA has been rarely described in Brazilian patients. Methods We performed a retrospective observational multicentric study including six different Neurology Centers in Brazil. All patients with genetically confirmed diagnosis of DRPLA had their medical records evaluated and clinical, genetic and neuroimaging features were analyzed. Results We describe of eight Brazilian patients (5 male, 3 female) from four nuclear families with genetically confirmed DRPLA. The most common neurological features included cerebellar ataxia (n = 7), dementia (n = 3), chorea (n = 2), psychiatric disturbances (n = 2), progressive myoclonic epilepsy (n = 2) and severe bulbar signs (n = 1). Progressive myoclonic epilepsy was observed in two juvenile-onset cases before 20-year. A large CAG trinucleotide length was observed in the two juvenile-onset cases and genetic anticipation was observed in all cases. Neuroimaging studies disclosed cerebellar atrophy (n = 6), as well as brainstem and cerebellar atrophy (n = 2) and leukoencephalopathy (n = 1). Conclusion The patients described herein reinforce that clinical features of DRPLA are highly influenced by age of onset, genetic anticipation and CAG repetition lengths. There is a large complex spectrum of neurological features associated with DRPLA, varying from pure cerebellar ataxia to dementia associated with other movement disorders (myoclonus, choreoathetosis). DRPLA is an unusual cause of cerebellar ataxia and neurodegeneration in Brazilian patients.
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