Severe cognitive impairment in a patient with CMT2A

J Peripher Nerv Syst. 2018 Jun;23(2):147-148. doi: 10.1111/jns.12260. Epub 2018 Mar 26.

Authors

Pedro J Tomaselli^{1

2}, Mahima Kapoor¹, Andrea Cortese¹, James M Polke³, Alexander M Rossor¹, Mary M Reilly¹

Affiliations

¹ MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
² Department of Neuromuscular Disorders, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.
³ Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

PMID: 29520876
DOI: 10.1111/jns.12260

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Charcot-Marie-Tooth Disease / complications*
Charcot-Marie-Tooth Disease / genetics
Cognition / physiology
Cognitive Dysfunction / etiology*
Cognitive Dysfunction / genetics
Female
GTP Phosphohydrolases / genetics
Humans
Mitochondrial Proteins / genetics
Neuropsychological Tests
Young Adult

Substances

Mitochondrial Proteins
GTP Phosphohydrolases
MFN2 protein, human

Supplementary concepts

Charcot-Marie-Tooth disease, Type 2A