title: Hyperhomocysteinemia in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
abstract: OBJECTIVE
  To determine whether patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) had evidence of increased homocysteine levels compared with non-CADASIL patients with ischemic stroke or transient ischemic attack.
  
  
  METHODS
  We compared fasting plasma homocysteine levels and levels 6 hours after oral loading with methionine, 100 mg/kg, in non-CADASIL patients with ischemic stroke or transient ischemic attack and in patients with CADASIL. Prechallenge, postchallenge, and change in homocysteine levels between the 2 groups were compared with use of the Wilcoxon rank sum test.
  
  
  RESULTS
  CADASIL and non-CADASIL groups were similar in age (mean, 48.8 vs. 46.5 years, respectively; 2-tailed t test, P=.56) and sex (men, 86% vs 59%; Fisher exact test, P=.12). The 59 patients in the CADASIL group had higher median plasma homocysteine levels compared with the 14 patients in the non-CADASIL group, both in the fasting state (12.0 vs 9.0 micromol/L; P=.03) and after methionine challenge (51.0 vs 34.0 micromol/L; P=.007). Median difference between homocysteine levels before and after methionine challenge was greater in the CADASIL group than in the non-CADASIL group (34.5 vs. 24.0 micromol/ L; P = .02).
  
  
  CONCLUSIONS
  Our findings raise the possibility that increased homocysteine levels or abnormalities of homocysteine metabolism may have a role in the pathogenesis of CADASIL.
authors.affiliation: Division of Cerebrovascular Diseases Mayo Clinic, Rochester, Minn. 55905, USA.
authors.forename: K D
authors.initials: KD
authors.lastname: Flemming
authors.forename: T T
authors.initials: TT
authors.lastname: Nguyen
authors.forename: H S
authors.initials: HS
authors.lastname: Abu-Lebdeh
authors.forename: J E
authors.initials: JE
authors.lastname: Parisi
authors.forename: D O
authors.initials: DO
authors.lastname: Wiebers
authors.forename: J D
authors.initials: JD
authors.lastname: Sicks
authors.forename: W M
authors.initials: WM
authors.lastname: O'Fallon
authors.forename: G W
authors.initials: GW
authors.lastname: Petty
mesh_terms: D000328:Adult; D017677:Age Distribution; D001706:Biopsy; D016022:Case-Control Studies; D002539:Cerebral Arterial Diseases / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D015161:Dementia, Multi-Infarct / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D015140:Dementia, Vascular / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D005215:Fasting; D005260:Female; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology / Q000378:metabolism; D008297:Male; D008715:Methionine; D008875:Middle Aged; D010641:Phenotype; D012307:Risk Factors; D017678:Sex Distribution
chemical_list: D006710:Homocysteine; D008715:Methionine