ArticleTremor and other hyperkinetic movements (New York, N.Y.)2026
Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Abstract
Background: Type-III (adult/chronic) GM1 gangliosidosis is an uncommon, late-onset lysosomal disorder that frequently presents as a complex movement disorder. Methods: In this retrospective case series, clinical details, neuroimaging, electrophysiology, and genetics were extracted from standardized records and videos. Results: Eight patients were identified with median age at symptom onset of 6 years (range 3-18), and age at presentation of 23 years (12-27). All exhibited generalized dystonia with early, conspicuous oro-mandibular-cranio-cervical involvement; dysarthria was universal, parkinsonism occurred in two, and corticospinal signs in six. Ocular motor abnormalities were frequent; kyphoscoliosis was common. Where performed, nerve conduction studies, electroencephalography, evoked potentials, and abdominal ultrasound were unremarkable. MRI consistently demonstrated bilateral posterior putaminal T2/FLAIR change and the pathognomonic pallidal SWI "wishbone" pattern. All patients harboured biallelic Discussion: A prominent oromandibular-cranio-cervical dystonia, posterior putaminal atrophy, and hyperintensity, with a SWI "wishbone" sign, strongly point to Type-III GM1 gangliosidosis. Recognizing this clinico-radiologic-genetic constellation can streamline targeted testing and counselling.
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