Parkinsonism & related disorders · 2026
Spinocerebellar ataxia type 10 in a Guatemalan family: Characterization and preliminary evaluation of neurofilament light chain as a biomarker.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Chmiela Tomasz, Pozo Cabanell Ignacio, Petrucelli Leonard, Prudencio Mercedes, Wszolek Zbigniew K
Аннотация
BACKGROUND AND OBJECTIVES: Spinocerebellar ataxia type 10 (SCA10) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia and, frequently, seizures. While it is linked to Native American and East Asian ancestry, no cases have previously been reported in Guatemala.
METHODS: We evaluated a large Guatemalan family at the Mayo Movement Disorder Clinic with index case of a 42-year-old Native American man with genetically confirmed SCA10. Assessment included clinical history, the Scale for the Assessment and Rating of Ataxia (SARA), neuroimaging, and molecular genetic testing. Additionally, neurofilament light chain (NfL) levels were measured in plasma and cerebrospinal fluid (CSF) from index symptomatic SCA10 case, unaffected relatives, two healthy controls and two symptomatic SCA3 cases.
RESULTS: The index patient presented with slowly progressive balance impairment, dysarthria, and limb ataxia starting in his 30s. Genetic testing confirmed a pathogenic ATTCT repeat expansion in the ATXN10 gene. A strong family history was noted, with several affected siblings and a wheelchair-bound mother, though notably, no family members experienced seizures. CSF NfL levelin the index case (650.7 pg/mL) was elevated compared to an unaffected relative and healthy controls.
DISCUSSION: This report identifies the first SCA10 family in Guatemala, extending the known geographic distribution of the disorder in Central America. Our findings also provide the first data on CSF NfL in SCA10, suggesting its potential utility as a biomarker for monitoring disease progression.
METHODS: We evaluated a large Guatemalan family at the Mayo Movement Disorder Clinic with index case of a 42-year-old Native American man with genetically confirmed SCA10. Assessment included clinical history, the Scale for the Assessment and Rating of Ataxia (SARA), neuroimaging, and molecular genetic testing. Additionally, neurofilament light chain (NfL) levels were measured in plasma and cerebrospinal fluid (CSF) from index symptomatic SCA10 case, unaffected relatives, two healthy controls and two symptomatic SCA3 cases.
RESULTS: The index patient presented with slowly progressive balance impairment, dysarthria, and limb ataxia starting in his 30s. Genetic testing confirmed a pathogenic ATTCT repeat expansion in the ATXN10 gene. A strong family history was noted, with several affected siblings and a wheelchair-bound mother, though notably, no family members experienced seizures. CSF NfL levelin the index case (650.7 pg/mL) was elevated compared to an unaffected relative and healthy controls.
DISCUSSION: This report identifies the first SCA10 family in Guatemala, extending the known geographic distribution of the disorder in Central America. Our findings also provide the first data on CSF NfL in SCA10, suggesting its potential utility as a biomarker for monitoring disease progression.