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dystonia, cerebral palsy, mitochondrial disease

Crystal A Lee, Lih-Shen Chin, Lian Li
Hypertonia is a neurological dysfunction associated with a number of central nervous system disorders, including cerebral palsy, Parkinson's disease, dystonia, and epilepsy. Genetic studies have identified a homozygous truncation mutation in Trak1 that causes hypertonia in mice. Moreover, elevated Trak1 protein expression is associated with several types of cancers and variants in Trak1 are linked to childhood absence epilepsy in humans. Despite the importance of Trak1 in health and disease, the mechanisms of Trak1 action remain unclear and the pathogenic effects of Trak1 mutation are unknown...
September 18, 2017: Protein & Cell
Hanne Laakkonen, Tuula Lönnqvist, Johanna Uusimaa, Erik Qvist, Leena Valanne, Matti Nuutinen, Marja Ala-Houhala, Kari Majamaa, Hannu Jalanko, Christer Holmberg
Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessively inherited disease occurring due to mutations in the nephrin gene (NPHS1). Two main Finnish mutations exist: Fin-major and minor, which both cause a lack of nephrin and absence of the slit diaphragm between the podocytes. This leads to severe proteinuria, nephrotic syndrome and infections, and without dialysis or renal transplantation, death in infancy. Between 1984 and 2003, six (8.6%) of the 70 NPHS1 patients diagnosed at our institution had, in addition to their renal disease, similar neurological symptoms...
February 2006: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Günter U Höglinger, Annie Lannuzel, Myriam Escobar Khondiker, Patrick P Michel, Charles Duyckaerts, Jean Féger, Pierre Champy, Annick Prigent, Fadia Medja, Anne Lombes, Wolfgang H Oertel, Merle Ruberg, Etienne C Hirsch
Reduced activity of the mitochondrial respiratory chain--particularly complex I--may be implicated in the etiology of both Parkinson's disease and progressive supranuclear palsy, although these neurodegenerative diseases differ substantially as to their distinctive pattern of neuronal cell loss and the predominance of cerebral alpha-synuclein or tau protein pathology. To determine experimentally whether chronic generalized complex I inhibition has an effect on the distribution of alpha-synuclein or tau, we infused rats systemically with the plant-derived isoflavonoid rotenone...
November 2005: Journal of Neurochemistry
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