Article
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
Neurology - 25 Oct 2016
Bugiani Marianna, Kevelam Sietske H, Bakels Hannah S, Waisfisz Quinten, Ceuterick-de Groote Chantal, Niessen Hans W M, Abbink Truus E M, Lesnik Oberstein Saskia A M J, van der Knaap Marjo S
Abstract excerpt
OBJECTIVE: To characterize the clinical and MRI features of 2 families with adult-onset dominant leukoencephalopathy and strokes and identify the underlying genetic cause. METHODS: We applied MRI pattern recognition, whole-exome sequencing, and neuropathology. RESULTS: Based on brain imaging, 13 family members of 40 years or older from 2 families were diagnosed with the disease; in 11 family members of the same...
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