Identification of candidate genes in patients with amyotrophic lateral sclerosis by breakpoint characterisation
J.S Dullinger, J Prudlo, K Roemer, T Martin, E Göttert, K Zang, A.C Ludolph, C Menzel, V.M Kalscheuer, H.H Ropers, T Meyer · Aktuelle Neurologie · 2005 · Heft 10
Bibliografische Angaben
Zusammenfassung
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the selective loss of upper and lower motor neurons in the brain and spinal cord. Familial forms of ALS (FALS) account for 5–10% of all ALS patients and to date two disease genes, SOD1 and ALS2, have been identified. Genetic causes of the sporadic forms of ALS (SALS) are still unknown. We have investigated five patients with SALS carrying balanced chromosomal rearrangements (t(4;19) (q22;p13.1), t(4;20) (p15.3;q11.2), t(18;21) (q23;q22.1), inv(12) (p11q13), inv(X) (p11.2q21.3)) in order to identify SALS underlying genetic…
