CADASIL with a Novel Mutation in Exon 7 of NOTCH3 (C388Y)

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概要

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• We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the case of rare mutations outside the mutation hotspots in NOTCH3 as shown in this patient.

著者

• Sakajiri Ken-ichi

  The Department Of Neurology National Saigata Hospital Niigata

• Cave-Riant Florence

  Laboratoire de Cytogénétique, Hôpital Lariboisière

• Yamada Masahito

  the Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science

• Yoshita Mitsuhiro

  the Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science

• Joutel Anne

  Laboratoire de Cytogénétique, Hôpital Lariboisière

• Ishida Chiho

  the Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science

関連論文

• 皮膚免疫染色にて診断され、Notch3 遺伝子 exon 7に新規変異を認めたCADASIL
• A Family with Adult Type Ceroid Lipofuscinosis (Kus'f Disease) and Heart Muscle Disease: Report of Two Autopsy Cases
• Mononeuropathy Multiplex with Ulcerative Colitis
• CADASIL with a Novel Mutation in Exon 7 of NOTCH3 (C388Y)
• Unilateral Facial Swelling and Exophthalmos in a Patient with Polyarteritis Nodosa.
• Polyarteritis Nodosa(PN) Complicated with Unilateral Exophthalmos.

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