TY - JOUR
AU - Schüle, Rebecca
AU - Wiethoff, Sarah
AU - Martus, Peter
AU - Karle, Kathrin N
AU - Otto, Susanne
AU - Klebe, Stephan
AU - Klimpe, Sven
AU - Gallenmüller, Constanze
AU - Kurzwelly, Delia
AU - Henkel, Dorothea
AU - Rimmele, Florian
AU - Stolze, Henning
AU - Kohl, Zacharias
AU - Kassubek, Jan
AU - Klockgether, Thomas
AU - Vielhaber, Stefan
AU - Kamm, Christoph
AU - Klopstock, Thomas
AU - Bauer, Peter
AU - Züchner, Stephan
AU - Liepelt-Scarfone, Inga
AU - Schöls, Ludger
TI - Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
JO - Annals of neurology
VL - 79
IS - 4
SN - 0364-5134
CY - Hoboken, NJ
PB - Wiley-Blackwell
M1 - DZNE-2020-04820
SP - 646-658
PY - 2016
AB - Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum, prognostic factors, and genotype-specific differences, we analyzed baseline data from a continuous, prospective cohort.We recruited 608 HSP cases from 519 families of mostly German origin. Clinical severity was assessed by the Spastic Paraplegia Rating Scale. Complicating symptoms were recorded by a standardized inventory.Family history indicated dominant (43
KW - Adult
KW - Aged
KW - Cross-Sectional Studies
KW - Female
KW - Germany: epidemiology
KW - Humans
KW - Male
KW - Middle Aged
KW - Pedigree
KW - Severity of Illness Index
KW - Spastic Paraplegia, Hereditary: epidemiology
KW - Spastic Paraplegia, Hereditary: genetics
KW - Spastic Paraplegia, Hereditary: physiopathology
LB - PUB:(DE-HGF)16
C6 - pmid:26856398
DO - DOI:10.1002/ana.24611
UR - https://pub.dzne.de/record/138498
ER -