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Biomedical subjects

M Toft

Publications and source records attributed to M Toft.

6 recordsLinked to original sources
PubMed2007

PINK1 mutation heterozygosity and the risk of Parkinson's disease.

BACKGROUND: Mutations in the PTEN-induced kinase 1 (PINK1) gene have been identified in recessively inherited and sporadic early-onset parkinsonism (EOP). METHODS: A total of 131 Norwegian patients diagnosed with Parkinson's disease were included. Of them, 89 participants had EOP (onset < or = 50 years); the remaining had familial late-onset disease (mean age at onset 64 years). PINK1 analysis included sequencing and gene dose assessment. Mutations were examined in 350 controls. RESULTS: Heterozygous missense mutations in PINK1 were found in 3 of 131 patients; none of the patients carried homozygous or compound heterozygous mutations. One of these three patients had a father affected by Parkinson's disease, and he carried the mutation. Three new and seven known polymorphic variants were identified, although none seemed to be associated with disease risk. CONCLUSIONS: PINK1 mutations are rare in Norwegian patients with EOP and familial Parkinson's disease. However, the data suggest that some heterozygous mutations might increase the risk of developing Parkinson's disease.

Adult↗
PubMed2006

Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population.

An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD and 474 controls for 2 common functional mutations of the GBA protein, N370S and L444P. Seven patients (2.3%) and 8 controls (1.7%) carried a mutant GBA allele (p = 0.58). This study does not indicate increased susceptibility to PD in GBA mutations carriers in Norway.

Adult↗
PubMed2006

Lrrk2 R1441 substitution and progressive supranuclear palsy.

Mutation of the LRRK2 gene has been associated with autosomal dominant parkinsonism. An R1441C pathogenic substitution was identified in Family D, a large Western Nebraskan kindred, with four members demonstrating pleomorphic pathology at autopsy. One member of this family displayed tau pathology suggestive of progressive supranuclear palsy (PSP). To evaluate the influence of mutation at the R1441 residue in this disorder we screened a series of 242 pathologically confirmed PSP cases. No evidence was found for the presence of a mutation at this codon in our series. These data would suggest that this Lrrk2 variant does not contribute in susceptibility to PSP.

Aged↗
PubMed2006

Parkinson's disease: the genetics of a heterogeneous disorder.

Since the first description of Parkinson's disease (PD) in 1817 attempts have been made to resolve the etiology of this common neurodegenerative disorder. In the last century the influence of heredity in PD was controversial. The identification of mutations in six genes responsible for Mendelian forms of PD; alpha-synuclein (SNCA), parkin (PRKN), ubiquitin C-terminal hydrolase L1 (UCH-L1), oncogene DJ-1, PTEN-induced putative kinase 1 (PINK1), and most recently leucine-rich repeat kinase 2 (LRRK2), has confirmed the role of genetics in familial forms of the disease. The exact relationship of these familial disorders and related genes to the more common sporadic form is currently uncertain. The identification of LRRK2 mutations and the association of common variants in SNCA and UCH-L1 in apparently sporadic late-onset disease indicate these genes may be of greater importance than previously believed. The protein products of the six genes are involved in different pathways of neurodegeneration and have opened new avenues of research. This focused research will lead to the development of novel targeted therapies, which may revolutionize the treatment of PD for a substantial proportion of patients.

History, 18th Century↗
PubMed1992

Ultrasound image of human masseter muscle related to bite force, electromyography, facial morphology, and occlusal factors.

The thickness of the human masseter muscle, corresponding approximately to a cross-section at the most bulky part of the superficial portion, was measured by ultrasound scanning at three sites 1 cm apart. The study included 13 women, 21-28 yr of age, with a minimum of 24 teeth and without craniomandibular disorders. Ultrasonography produced a well-defined depiction of the muscle with distinct tendinous structures. The average thickness at the measuring sites varied from 8.83 to 11.08 mm with the muscle relaxed, and increased significantly during contraction to average values between 9.84 and 12.57 mm. The study showed a connection between measures of masseter thickness and function of the muscle, as well as parameters generally associated with masseter muscle function. Muscle thickness at the voluminous anterior part of the superficial portion was systematically and significantly correlated to bite force, occlusal tooth contact and cephalometric data (anterior face height, vertical jaw relation and mandibular inclination). In conclusion, ultrasound scanning gave an uncomplicated and a reproducible access to parameters of jaw muscle function and its interaction with the craniomandibular system.

Adult↗