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Episodic neurological dysfunction in hereditary peripheral neuropathy

Content Provider	Scilit
Author	Mailankody, Pooja Isnwara, Pawanraj Palu Kulkarni, Girish Baburao Prasad, Chandrajit Mustare, Veerendrakumar
Copyright Year	2014
Abstract	Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) was confirmed with detection of mutation in Gap Junction B1 (GJB1) gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation). Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes.
Related Links	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350196/pdf
Ending Page	114
Page Count	4
Starting Page	111
File Format	XHTML
ISSN	09722327
e-ISSN	19983549
DOI	10.4103/0972-2327.144314
Journal	Annals of Indian Academy of Neurology
Issue Number	1
Volume Number	18
Language	English
Publisher	Medknow
Access Restriction	Open
Subject Keyword	Neuroimaging Charcot-marie Tooth Disease Connexin-32 Magnetic Resonance Imaging Neurologic Manifestations Annals of Indian Academy of Neurology, Volume 18, Issue 1
Content Type	Text
Resource Type	Article
Subject	Neurology (clinical)

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