Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL

被引：27

作者：

Malandrini, A

Albani, F

Palmeri, S

Fattapposta, F

Gambelli, S

Berti, G

Bracco, A

Tammaro, A

Calzavara, S

Villanova, M

Ferrari, M

Rossi, A

Carrera, P

机构：

[1] Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

[2] Osped San Raffaele, Lab Biol Mol Clin, Milan, Italy

[3] Univ Rome, Ist Clin Malattie Nervose & Mentali, Rome, Italy

[4] AORN A Cardarelli, Ctr Studio Ipertermia Maligna, Naples, Italy

来源：

NEUROLOGY | 2002年 / 59卷 / 04期

关键词：

D O I：

10.1212/WNL.59.4.617

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

收藏

页码：617 / 620

页数：4

相关论文

共 10 条

[1] Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family [J].

de la Peña, P ;

Bornstein, B ;

del Hoyo, P ;

Fernández-Moreno, MA ;

Martín, MA ;

Campos, Y ;

Gómez-Escalonilla, C ;

Molina, JA ;

Cabello, A ;

Arenas, J ;

Garesse, R .

NEUROLOGY, 2001, 57 (07) :1235-1238

[2] POLYMORPHISMS AND DEDUCED AMINO-ACID SUBSTITUTIONS IN THE CODING SEQUENCE OF THE RYANODINE RECEPTOR (RYR1) GENE IN INDIVIDUALS WITH MALIGNANT HYPERTHERMIA [J].

GILLARD, EF ;

OTSU, K ;

FUJII, J ;

DUFF, C ;

DELEON, S ;

KHANNA, VK ;

BRITT, BA ;

WORTON, RG ;

MACLENNAN, DH .

GENOMICS, 1992, 13 (04) :1247-1254

[3] The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients [J].

Joutel, A ;

Andreux, F ;

Gaulis, S ;

Domenga, V ;

Cecillon, M ;

Battail, N ;

Piga, N ;

Chapon, F ;

Godfrain, C ;

Tournier-Lasserve, E .

JOURNAL OF CLINICAL INVESTIGATION, 2000, 105 (05) :597-605

[4] Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy [J].

Malandrini, A ;

Carrera, P ;

Palmeri, S ;

Cavallaro, T ;

Fabrizi, GM ;

Villanova, M ;

Fattapposta, M ;

Vismara, L ;

Brancolini, V ;

Tanganelli, P ;

Cali, A ;

Morocutti, C ;

Zeviani, M ;

Ferrari, M ;

Guazzi, GC .

ACTA NEUROPATHOLOGICA, 1996, 92 (02) :115-122

[5]

MULLEY JC, 1993, AM J HUM GENET, V52, P398

[6]

Ruchoux MM, 1998, NEUROPATH APPL NEURO, V24, P60

[7] CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [J].

Ruchoux, MM ;

Maurage, CA .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1997, 56 (09) :947-964

[8]

THORIG GEW, 1981, GENETICS, V99, P65

[9] THE ACTION OF THE NOTCH LOCUS IN DROSOPHILA-MELANOGASTER .1. EFFECTS OF THE NOTCH8 DEFICIENCY ON MITOCHONDRIAL-ENZYMES [J].

THORIG, GEW ;

HEINSTRA, PWH ;

SCHARLOO, W .

MOLECULAR AND GENERAL GENETICS, 1981, 182 (01) :31-38

[10] CADASIL: Hereditary arteriopathy leading to multiple brain infarcts and dementia [J].

Viitanen, M ;

Kalimo, H .

VASCULAR FACTORS IN ALZHEIMER'S DISEASE, 2000, 903 :273-284