Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Sign Up to like & getrecommendations! Published in 2019 at "Nature Genetics"
DOI: 10.1038/s41588-019-0372-4
Abstract: Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive, or vestibular impairment; when in combination, it is also termed cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We used non-parametric linkage analysis and… read more here.
Keywords: cause late; late onset; onset ataxia; expansion ... See more keywords
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000628
Abstract: Variants in tumor suppressor genes and in genes encoding DNA repairing proteins are associated with syndromes conferring neurologic features and increased risk for malignancy. The best example for these conditions is ataxia-telangiectasia (AT). A more… read more here.
Keywords: novel samd9l; onset ataxia; adult onset; variant ... See more keywords
Clinical Reasoning: An 8-Year-Old With Acute Onset Ataxia
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000200906
Abstract: Acute ataxia is a common neurologic presentation in the pediatric population that carries a broad differential diagnosis. The tempo of the presentation, distribution of the ataxia (focal or diffuse), examination findings, and paraclinical testing may… read more here.
Keywords: acute; old acute; onset ataxia; year old ... See more keywords
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22105180
Abstract: The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms, paroxysmal events or… read more here.
Keywords: mutations causing; early onset; onset ataxia; cacna1a mutations ... See more keywords