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NEUROSAE 2018 ANNUAL MEETING EDITION (VOLUME 10, ISSUE 3)
QUESTION 99 OF 100

99.
A 44-year-old man with a long history of headaches, multiple strokes, and recent cognitive impairment presents to the vascular neurology clinic for establishing care. The history reveals his father and paternal grandfather had a similar presentations associated with progressive dementia. Which of the following genes is most often implicated in this condition?

A. NOTCH3 **
B. CACNA1a
C. SOD1
D. FTD1
E. SCN1a
** = Your answer

NOTCH3 mutation is the most commonly implicated gene in CADASIL. CACNA1a is a calcium channelopathy implicated in spinocerebellar ataxia type 6, episodic ataxia, and familial hemiplegic migraine. SCN1a is a sodium channelopathy implicated in familial hemiplegic migraine and generalized epilepsy with febrile seizures plus. FTD1 is implicated in frontotemporal dementia, and SOD1 is implicated in genetic amyotrophic lateral sclerosis.
References
* Pantoni L, Pescini F, Nannucci S, et al. Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. Neurology. 2010 Jan 5;74(1):57-63.

 

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