title: [Genetic studies in neurology].
abstract: The use of either direct or indirect genetic analyses in neurology is becoming ever greater as more genes are identified thanks to the human genome project. Often the methodologies are complex and difficult to understand. The aim of this review is to present various approaches to molecular diagnosis using several different inherited neurological diseases as examples. These include inherited mitochondriopathies, monogenetic disorders like trinucleotid repeat instability syndromes, duplication anomalies and specific point mutations as well as heterogenetic diseases such as limb girdle dystrophy and familial amyotrophic lateral sclerosis. Possible pathogenetic implications can now be proposed as the basis of new therapeutic modalities.
authors.affiliation: Neurologische Klinik, Kantonsspital Basel.
authors.forename: J
authors.initials: J
authors.lastname: Lechner-Scott
authors.forename: A J
authors.initials: AJ
authors.lastname: Steck
authors.forename: R J
authors.initials: RJ
authors.lastname: Scott
mesh_terms: D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D005819:Genetic Markers