Hereditary Ataxia
What's New
Last Posted: Oct 16, 2023
- Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.
Tanya Lam, et al. Brain communications 2023 0 (5) fcad244 - Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Luiz Eduardo Novis, et al. Neurology. Genetics 2023 0 (5) e200094 - Coexistence of multiple sclerosis and spinocerebellar ataxia type-8.
Nur Neyal, et al. Multiple sclerosis (Houndmills, Basingstoke, England) 2023 0 13524585231180549 - Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
Shakya Sunil, et al. Clinical genetics 2019 0 (6) 566-574 - [CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia].
Meindl Tobias, et al. Der Nervenarzt 2020 0 (6) 537-540 - Molecular epidemiology of hereditary ataxia in Finland.
Lipponen Joonas, et al. BMC neurology 2021 0 (1) 382 - Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland.
Juvonen Vesa, et al. Human genetics 2002 0 (1) 36-40 - Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Chen Zhongbo et al. Brain : a journal of neurology 2023 - Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome.
Dulski JarosLaw et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-4 - Differential diagnosis between Parkinson's disease and atypical parkinsonism based on gait and postural instability: Artificial intelligence using an enhanced weight voting ensemble model.
Song Joomee et al. Parkinsonism & related disorders 2022 9832-37
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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