BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene. The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse. OBJECTIVE: To assess peripheral neuropathy in patients with CADASIL. PATIENTS AND METHODS: We enrolled eleven CADASIL patients with variable phenotype including clinical signs of peripheral nerve involvement. In all patients electromyography and nerve conduction velocities were performed. Peripheral nerve biopsy was performed in three cases. RESULTS: We found sensory motor neuropathy in 7/11 patients. Nerve biopsy revealed axonal and demyelinated findings. CONCLUSION: Our findings suggest that peripheral neuropathy may be part of the CADASIL phenotype.
BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene. The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse. OBJECTIVE: To assess peripheral neuropathy in patients with CADASIL. PATIENTS AND METHODS: We enrolled eleven CADASIL patients with variable phenotype including clinical signs of peripheral nerve involvement. In all patients electromyography and nerve conduction velocities were performed. Peripheral nerve biopsy was performed in three cases. RESULTS: We found sensory motor neuropathy in 7/11 patients. Nerve biopsy revealed axonal and demyelinated findings. CONCLUSION: Our findings suggest that peripheral neuropathy may be part of the CADASIL phenotype.
Authors: A Malandrini; F Albani; S Palmeri; F Fattapposta; S Gambelli; G Berti; A Bracco; A Tammaro; S Calzavara; M Villanova; M Ferrari; A Rossi; P Carrera Journal: Neurology Date: 2002-08-27 Impact factor: 9.910
Authors: M Dichgans; M Mayer; I Uttner; R Brüning; J Müller-Höcker; G Rungger; M Ebke; T Klockgether; T Gasser Journal: Ann Neurol Date: 1998-11 Impact factor: 10.422
Authors: Ilaria Di Donato; Silvia Bianchi; Nicola De Stefano; Martin Dichgans; Maria Teresa Dotti; Marco Duering; Eric Jouvent; Amos D Korczyn; Saskia A J Lesnik-Oberstein; Alessandro Malandrini; Hugh S Markus; Leonardo Pantoni; Silvana Penco; Alessandra Rufa; Osman Sinanović; Dragan Stojanov; Antonio Federico Journal: BMC Med Date: 2017-02-24 Impact factor: 8.775