Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
From incidental cerebellar atrophy to progressive motor syndrome: a case within the spectrum of ATXN2-associated neurodegeneration.
Клинический случайПисьмо в редакциюНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
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История · было → стало
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Huang Xin, Ma Yan, Ma Xinran, Xia Kailin, Fan Dongsheng
Аннотация
BACKGROUND: Increasing evidence suggests that ATXN2-related disorders represent a clinical spectrum with variable presentations.
CASE PRESENTATION: We report a 70-year-old Chinese man carrying an ATXN2 allele with 34 CAG repeats (20/34 repeats). Cerebellar atrophy was incidentally noted on magnetic resonance imaging (MRI) more than ten years before symptom onset. He later developed bradykinesia and rigidity. After rapid weight loss, he developed a rapidly progressive motor syndrome with clinical upper and lower motor neuron features, followed by type II respiratory failure requiring noninvasive ventilation.
CONCLUSIONS: These findings support the notion that ATXN2-associated neurodegeneration may represent a clinical continuum.
CASE PRESENTATION: We report a 70-year-old Chinese man carrying an ATXN2 allele with 34 CAG repeats (20/34 repeats). Cerebellar atrophy was incidentally noted on magnetic resonance imaging (MRI) more than ten years before symptom onset. He later developed bradykinesia and rigidity. After rapid weight loss, he developed a rapidly progressive motor syndrome with clinical upper and lower motor neuron features, followed by type II respiratory failure requiring noninvasive ventilation.
CONCLUSIONS: These findings support the notion that ATXN2-associated neurodegeneration may represent a clinical continuum.