Blurred Lines in Neurology: ATP1A1 Variant Redefines CMT Spectrum (P12-11.020)

To report a case of Charcot-Marie-Tooth (CMT) disease associated with a heterozygous pathogenic variant in ATP1A1, presenting with atypical features including cognitive impairment and visual snow syndrome.

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Publication Details

Journal
Neurology
Published
2025-04-07
DOI
https://doi.org/10.1212/wnl.0000000000208622
Primary Topic
Diet and metabolism studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Blurred Lines in Neurology: ATP1A1 Variant Redefines CMT Spectrum (P12-11.020)

Madeline Williamson, J. David Avila, Lamees Alhallaq
Neurology
Diet and metabolism studies
article

Blurred Lines in Neurology: ATP1A1 Variant Redefines CMT Spectrum (P12-11.020)

Madeline Williamson, J. David Avila, Lamees Alhallaq
article en

Abstract

To report a case of Charcot-Marie-Tooth (CMT) disease associated with a heterozygous pathogenic variant in ATP1A1, presenting with atypical features including cognitive impairment and visual snow syndrome.

NeurologyVol. 104(7_Supplement_1)
Geisinger Medical Center (US)
Zero hunger
Openalex Percentile: Top 91%
Diet and metabolism studies
DOISourceOpenAlex
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Blurred Lines in Neurology: ATP1A1 Variant Redefines CMT Spectrum (P12-11.020) — Madeline Williamson, J. David Avila, et al. · Neurology (2025) | TGRS Research Map | TGRS