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Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.
Traschütz A, Heindl F, Bilal M, Hartmann AM, Dufke C, Riess O, Zwergal A, Rujescu D, Haack T, Synofzik M, Strupp M. Traschütz A, et al. Neurology. 2023 Sep 5;101(10):e1001-e1013. doi: 10.1212/WNL.0000000000207553. Epub 2023 Jul 17. Neurology. 2023. PMID: 37460231
Clear dysarthria, appendicular ataxia, or cerebellar atrophy developed 6-8 years after onset. Dysarthria, absent patellar reflexes, and downbeat nystagmus best discriminated RFC1-positive BVP from RFC1-negative BVP, but neither sensory symptoms nor fine motor …
Clear dysarthria, appendicular ataxia, or cerebellar atrophy developed 6-8 years after onset. Dysarthria, absent patellar r …
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.
Peragallo JH, Keller S, van der Knaap MS, Soares BP, Shankar SP. Peragallo JH, et al. Ophthalmic Genet. 2018 Jan-Feb;39(1):99-102. doi: 10.1080/13816810.2017.1350723. Epub 2017 Aug 18. Ophthalmic Genet. 2018. PMID: 28820624 Free PMC article.
The physical exam revealed bilateral optic atrophy, peripheral retinal bone spicule pigmentation, and absent patellar reflexes. Electromyography was consistent with demyelinating polyneuropathy. ...
The physical exam revealed bilateral optic atrophy, peripheral retinal bone spicule pigmentation, and absent patellar refle …
Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy.
Braga VL, Tamanini JVG, Gama SM, Fraiman PHA, Silva TYT, Santos-Neto D, Barsottini OGP, Pedroso JL. Braga VL, et al. Clin Neurol Neurosurg. 2024 Apr;239:108213. doi: 10.1016/j.clineuro.2024.108213. Epub 2024 Feb 28. Clin Neurol Neurosurg. 2024. PMID: 38479034
We present a case of a Brazilian woman of Okinawan ancestry, with symmetrical proximal weakness, fasciculations, absent patellar reflexes and positive familial history for the same symptoms. ...
We present a case of a Brazilian woman of Okinawan ancestry, with symmetrical proximal weakness, fasciculations, absent patellar …