TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

TDP‐43 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in...

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Veröffentlicht in:	Movement disorders 2009-09, Vol.24 (12), p.1842-1847
Hauptverfasser:	Kovacs, Gabor G., Murrell, Jill R., Horvath, Sandor, Haraszti, Laszlo, Majtenyi, Katalin, Molnar, Maria J., Budka, Herbert, Ghetti, Bernardino, Spina, Salvatore
Format:	Artikel
Sprache:	eng
Schlagworte:	amyotrophic lateral sclerosis atypical dementia Biological and medical sciences Chorea - diagnosis Chorea - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Family Health Female Frontotemporal Dementia - diagnosis Frontotemporal Dementia - genetics Genetic Predisposition to Disease Glutamic Acid - genetics Humans Lysine - genetics Magnetic Resonance Imaging Male Medical sciences Middle Aged movement disorders Mutation - genetics Neurology neuropathology Neuropsychological Tests Supranuclear Palsy, Progressive - diagnosis Supranuclear Palsy, Progressive - genetics TDP-43 Tomography Scanners, X-Ray Computed
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