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Neurology 2002;59:617-620
© 2002 American Academy of Neurology
Brief Communications

Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL

A. Malandrini, MD, F. Albani, BSc, S. Palmeri, MD, F. Fattapposta, MD, S. Gambelli, MD, G. Berti, BSc, A. Bracco, BSc, A. Tammaro, BSc, S. Calzavara, BSc, M. Villanova, MD, M. Ferrari, MD, A. Rossi, MD and P. Carrera, PhD

From Istituto Scienze Neurologiche (Drs. Malandrini, Palmeri, Gambelli, Villanova, and Rossi, and G. Berti), Università di Siena; I.R.C.C.S. Ospedale S. Raffaele (Drs. Ferrari and Carrera, F. Albani, and S. Calzavara), Laboratorio Biologia Molecolare Clinica, Milano; Istituto di Clinica delle Malattie Nervose e Mentali (Dr. Fattapposta), Università di Roma; Centro per lo Studio dell’Ipertermia Maligna (A. Bracco and A. Tammaro), AORN "A. Cardarelli," Napoli, Italy.

Address correspondence and reprint requests to Alessandro Malandrini, MD, Institute of Neurological Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy; e-mail: malandrini{at}unisi.it

Three siblings with genetically assessed cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with core-like lesions and mitochondrial abnormalities in muscles are described. Involvement of the Ryanodine receptor 1 gene was excluded. In the current cases, the relation between molecular genetic lesion and muscle fiber abnormalities remains to be determined, but the Notch3 gene may influence mitochondrial metabolism.




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