Peripheral neuropathy in a case with CADASIL: a case report

BMC Neurology
Yusuke SakiyamaHiroshi Takashima

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by central nervous system dysfunctions. It is unclear whether CADASIL is involved in peripheral neuropathy. A 67-year-old Japanese man with stepwise progression of sensory and motor neuropathy was admitted to our hospital. Peripheral neuropathy of the extremities was detected through electrophysiological and pathological studies, and brain magnetic resonance imaging revealed bilateral periventricular ischemic and thalamic hemorrhagic lesions. We diagnosed CADASIL after detecting granular osmiophilic material in the walls of the endoneurial vessels morphologically and identifying a heterozygous NOTCH3 mutation p.Arg75Pro. CADASIL is to be included in the work-up of not classified peripheral neuropathies.

References

Mar 11, 2000·The Journal of Clinical Investigation·A JoutelE Tournier-Lasserve
Apr 14, 2005·Journal of Neurology·Francesco SicurelliAntonio Federico
Dec 6, 2005·Acta Neuropathologica·J M SchröderM J Molnar
Jul 28, 2006·Acta Neuropathologica·Akira IshikoNorihiro Suzuki
Dec 2, 2008·Internal Medicine·Toshiki MizunoMasanori Nakagawa
Jun 23, 2009·Lancet Neurology·Hugues ChabriatMarie-Germaine Bousser

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Methods Mentioned

BETA
biopsy
exome sequencing

Software Mentioned

CADASIL

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