title: Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.
abstract: BACKGROUND
  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a disease caused by alterations in the NOTCH3 gene.
  
  
  METHODS
  We describe the clinical, instrumental, and genetic findings in CADASIL patients who carry novel NOTCH3 gene mutations.
  
  
  CONCLUSIONS
  This study broadens the spectrum of clinical manifestations and genetic alterations associated with this disease.
authors: Centro Sclerosi Multipla, Dipartimento di Salute Publica, Medicina Clinica e Molecolare, Università di Cagliari, Caligari, Italy.
authors: Gabriella
authors: G
authors: Spinicci
authors: Maria
authors: M
authors: Conti
authors: Maria Valeria
authors: MV
authors: Cherchi
authors: Cristina
authors: C
authors: Mancosu
authors: Raffaele
authors: R
authors: Murru
authors: Nicola
authors: N
authors: Carboni
mesh_terms: D000293:Adolescent; D000328:Adult; D046589:CADASIL / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D055815:Young Adult
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch