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Your search keyword '"Fogel, Brent L."' showing total 5 results
Start Over Author "Fogel, Brent L." Journal neurology genetics
5 results on '"Fogel, Brent L."'

1. Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing

Author

Watson, Sonya, primary, Ngo, Kathie J., additional, Stevens, Hannah A., additional, Wong, Darice Y., additional, Kim, Jihye, additional, Song, Yongjun, additional, Han, Beomman, additional, Hyun, Seong-In, additional, Khang, Rin, additional, Ryu, Seung Woo, additional, Lee, Eugene, additional, Seo, Gohun, additional, Lee, Hane, additional, Lajonchere, Clara, additional, and Fogel, Brent L., additional

Published
2024
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2. Prevalence of spinocerebellar ataxia 36 in a US population

Author

Valera, Juliana M, Diaz, Tatyana, Petty, Lauren E, Quintáns, Beatriz, Yáñez, Zuleima, Boerwinkle, Eric, Muzny, Donna, Akhmedov, Dmitry, Berdeaux, Rebecca, Sobrido, Maria J, Gibbs, Richard, Lupski, James R, Geschwind, Daniel H, Perlman, Susan, Below, Jennifer E, and Fogel, Brent L

Subjects
Clinical Research, Rare Diseases, Brain Disorders, Genetics, Neurodegenerative, Neurosciences, Neurological
Abstract

ObjectiveTo assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States.MethodsA total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a tertiary referral ataxia center were molecularly evaluated for SCA36. Repeat primed PCR and fragment analysis were used to screen for the presence of a repeat expansion in the NOP56 gene.ResultsFragment analysis of triplet repeat primed PCR products identified a GGCCTG hexanucleotide repeat expansion in intron 1 of NOP56 in 4 index cases. These 4 SCA36-positive families comprised 2 distinct ethnic groups: white (European) (2) and Asian (Japanese [1] and Vietnamese [1]). Individuals affected by SCA36 exhibited typical clinical features with gait ataxia and age at onset ranging between 35 and 50 years. Patients also suffered from ataxic or spastic limbs, altered reflexes, abnormal ocular movement, and cognitive impairment.ConclusionsIn a US population, SCA36 was observed to be a rare disorder, accounting for 0.7% (4/577 index cases) of disease in a large undiagnosed ataxia cohort.

Published
2017

3. Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

Author

Aboud Syriani, Dona, primary, Wong, Darice, additional, Andani, Sameer, additional, De Gusmao, Claudio M., additional, Mao, Yuanming, additional, Sanyoura, May, additional, Glotzer, Giacomo, additional, Lockhart, Paul J., additional, Hassin-Baer, Sharon, additional, Khurana, Vikram, additional, Gomez, Christopher M., additional, Perlman, Susan, additional, Das, Soma, additional, and Fogel, Brent L., additional

Published
2020
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5. Expanding the global prevalence of spinocerebellar ataxia type 42

Author

Ngo, Kathie, primary, Aker, Mamdouh, additional, Petty, Lauren E., additional, Chen, Jason, additional, Cavalcanti, Francesca, additional, Nelson, Alexandra B., additional, Hassin-Baer, Sharon, additional, Geschwind, Michael D., additional, Perlman, Susan, additional, Italiano, Domenico, additional, Laganà, Angelina, additional, Cavallaro, Sebastiano, additional, Coppola, Giovanni, additional, Below, Jennifer E., additional, and Fogel, Brent L., additional

Published
2018
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