Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations. [PDF]
Eur J Hum Genet, 2023 Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include hereditary spastic paraplegia (HSP), cerebellar ataxia, and spinocerebellar ataxia.
Yahia A +43 more
europepmc +2 more sources
Phenotypic and genetic aspects of hereditary ataxia in dogs
Journal of Veterinary Internal Medicine, 2023 Hereditary ataxias are a large group of neurodegenerative diseases that have cerebellar or spinocerebellar dysfunction as core feature, occurring as an isolated sign or as part of a syndrome.
Kimberley Stee +6 more
doaj +2 more sources
Navigating the diagnostic challenges of myoclonus in neurodegenerative disorders: video-EEG/polygraphy, clinical vignettes, and narrative analysis [PDF]
Frontiers in NeurologyPurposeMyoclonus—sudden, brief, involuntary muscle jerks—is a frequent and diagnostically challenging feature across neurodegenerative disorders. Unlike epileptic myoclonus, these manifestations rarely involve seizures; they often reflect extensive ...
Giuseppe d’Orsi +7 more
doaj +2 more sources
Cognitive Impairment in Spinocerebellar Degeneration [PDF]
European Neurology, 2009 It has been reported that patients with spinocerebellar degenerations (SCDs) have cognitive dysfunction as well as limb and truncal ataxia, dysarthria and dysphagia. We review cognitive dysfunction in common types of SCD, including spinocerebellar ataxia types 1, 2, 3, 6, and 17, dentatorubral-pallidoluysian atrophy, Friedreich’s ataxia, and multiple ...
Y, Kawai +3 more
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Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study
Acta Neurologica Scandinavica, 1994 A nationwide survey of patients in Japan with spinocerebellar degenerations (SCD), including SDS and SND, was conducted from 1988 to 1989. The survey consisted of two parts. The first revealed that the estimated total number of patients with SCD in Japan
Keizo Hirayama +2 more
exaly +2 more sources
The peripheral nerve involvement in spinocerebellar degenerations.
Japanese Journal of Medicine, 1983 We studies peripheral nerves electrophysiologically in 15 cases of spinocerebellar degenerations (SCD). Three patients showed abnormalities in 40% or more of the 13 items examined in this study. Two patients showed abnormalities in 20--40% of the items.
MANO, Yukio +2 more
openaire +4 more sources
Tapetoretinal Degenerations in Spinocerebellar Degenerations (Heredoataxias)
Acta geneticae medicae et gemellologiae, 1974 The association of hereditary spino-ponto-cerebellar degenerations with tapetoretinal degenerations of varying types, and particularly with Stargardt's macular degeneration, is not rare, as at the present time more than 200 cases are known. Therefore the one-gene hypothesis seems to be the most plausible.
J. François
openaire +2 more sources
Spinocerebellar Degenerations in Japan [PDF]
Neuroepidemiology, 2009 H. Teive
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Effects of Intensive Exercise on Cognitive Dysfunction in Patients With Pure Cerebellar Degeneration: A Single-Arm Pilot Study [PDF]
Annals of Rehabilitation Medicine, 2022 Objective To clarify the profile of cognitive dysfunction and the effects of intensive exercise in spinocerebellar degeneration (SCD). Methods We enrolled 60 healthy controls and 16 patients with purely cerebellar type SCD without gait disturbance or ...
Toshiya Shimamoto +7 more
doaj +1 more source