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Severe cognitive impairment in a patient with CMT2A
Author(s) -
Tomaselli Pedro J.,
Kapoor Mahima,
Cortese Andrea,
Polke James M.,
Rossor Alexander M.,
Reilly Mary M.
Publication year - 2018
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12260
Subject(s) - neurology , neurosurgery , medicine , clinical neurology , psychology , psychiatry , neuroscience
Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot Marie Tooth disease (CMT2) (Polke; 2011). Additional features known to occasionally occur with MFN2-related disorders are optic atrophy, pyramidal signs, scoliosis and deafness (Zuchner, 2006; Feely, 2011; Bombelli, 2014). Cognitive impairment has been reported in a small number of patients with MFN2 mutations (Del Bo, 2008; Genari, 2011; Tufano, 2015).
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