Browsing by Author "Bonsch, D."

Aim of this prospective study was to investigate a possible association between the apolipoprotein E4 (ApoE4) genotype and clinically well-known cognition deficits during alcohol withdrawal, We examined 172 patients with alcohol dependence (137 men, 35 women) during withdrawal treatment. The ApoE genotype was determined in all patients using polymerase chain reaction. Cognitive function was assessed applying the c.I.-Test on day 0 (admission) and on day 7 of withdrawal treatment. Using Pearson's chi(2) test we found no significant association between the ApoE4 genotype and cognition deficits for both dates (day 0: p = .463; day 7: p = .760). Moreover, multivariate logistic regression analyses revealed no significant association between presence of the ApoE4 allele and cognitive dysfunction. Even though ApoE4 plays an important role in alcoholism-related brain atrophy and cognition deficits in demented as well as in nondemented healthy elderly people, this study provides no evidence for an association with short-term cognition deficits during alcohol withdrawal. (c) 2005 Elsevier Inc. All rights reserved.

PURPOSE: To estimate the prevalence of C677T single nucleotide polymorphism in the 5,10-methylentetrahy drofolate reductase (MTHFR) gene in primary open-angle glaucoma (POAG) and pseudoexfoliation open, angle glaucoma (PEXG). DESIGN: Case-control study METHODS: MTHFR was assessed in 147 patients (76 POAG, 71 PEXG) and 71 control subjects with cataract. Associations of genotypes were assessed by Armitage's trend test and the corresponding odds ratio (OR) for allele positivity with 95% confidence interval (CI). RESULTS: We observed significant evidence of a higher prevalence of C677T in POAG (9% homozygote, 49% heterozygote, 42% wildtype, P =.01, OR = 2.38, 95% CI 1.23-4.62), but not in PEXG (9% homozygote, 41% heterozygote, 50% wildtype, P = .09, OR = 1.78, 95% CI 0.91-3.50) compared with the controls (3% homozygote, 34% heterozygote, 63% wildtype). CONCLUSIONS: The MTHFR C677T variant leading to moderate hyperhomocysteinemia may play a role in the pathogenesis of POAG acting as a genetic risk factor. (c) 2005 by Elsevier Inc. All rights reserved.

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most common form of autosomal dominant hereditary spastic paraplegia. It is caused by mutations in the SPG4 gene encoding spastin, a member of the AAA protein family of ATPases. In this study the spastin gene of HSP patients from 161 apparently unrelated families in Germany was analyzed. The authors identified mutations in 27 out of the 161 HSP families; 23 of these mutations have not been described before and only one mutation was found in two families. Among the detected mutations are 14 frameshift, four nonsense, and four missense mutations, one large deletion spanning several exons, as well as four mutations that affect splicing. Most of the novel mutations are located in the conserved AAA cassette-encoding region of the spastin gene. The relative frequency of spastin gene mutations in an unselected group of German HSP patients is approximately 17%. Frameshift mutations account for the majority of SPG4 mutations in this population. The proportion of splice mutations is considerably lower than reported elsewhere.