Abnormal DaTSCAN and Atypical Parkinsonism in SCA12
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12751
Abstract: The spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominantly inherited progressive ataxia disorders, with a variable clinical presentation. More than 40 gene loci and mutations have been identified so far; however, an expansion… read more here.
Keywords: sca12; parkinsonism sca12; atypical parkinsonism; abnormal datscan ... See more keywords
Rapidly Progressive Atypical Parkinsonism as a Presenting Feature of ATX‐CACNA1G (SCA42)
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13704
Abstract: Parkinsonism can be a prominent clinical manifestation of ATX-ATXN2 , ATX- ATXN3 , ATX- CACNA1A , ATX- TBP , ATX-STUB1 , and ATX- PPP2R2B with mild or absent cerebellar signs 1,2 with some cases resembling… read more here.
Keywords: atx; atypical parkinsonism; parkinsonism; rapidly progressive ... See more keywords
Prevalence of pain in atypical parkinsonism: a systematic review and meta-analysis
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DOI: 10.1007/s00415-018-9049-7
Abstract: Pain is common in atypical parkinsonism such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and dementia with Lewy bodies (LBD). In this study, a systematic review and meta-analysis was conducted… read more here.
Keywords: review meta; systematic review; atypical parkinsonism; pain ... See more keywords
Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000651
Abstract: Background and Objectives Variations in SLC9A6 cause the X-linked neurologic disorder Christianson syndrome in males. Meanwhile, female carriers with SLC9A6 variations may remain asymptomatic or develop intellectual disability, behavioral problems, and psychiatric illnesses. Only a… read more here.
Keywords: variation; female carriers; intellectual disability; atypical parkinsonism ... See more keywords
The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22158100
Abstract: In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes. Several disease-causing mutations and genetic risk factors have been unraveled, providing… read more here.
Keywords: related dystonias; dystonia; atypical parkinsonism; landscape parkinsonism ... See more keywords