Purpose Biallelic variants in UCHL1 have been associated with a progressive early-onset
neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study,
we investigated heterozygous UCHL1 variants on the basis of results from cohort-based
burden analyses. Methods Gene-burden analyses were performed on exome and genome
data of independent cohorts of patients with hereditary ataxia and spastic paraplegia from
Germany and the United Kingdom in a total of 3169 patients and 33,141 controls. Clinical …

Conceptualization: JP, AT, VC, H. Hengel, TBH, H. Houlden; Data Curation: JP, AT, VC, H.
Hengel; Data Analysis: JP, AT, VC, H. Hengel, KK, TBH, TL, AV, EG, LV, ND, MR, JA, BM, IC,
SO, TMS, MS, DS; Patients Recruitment and Phenotypic Characterization: JP, AT, H. Hengel,
LS, H. Houlden., JS, MB, EC, RM, G.-AH, CB, NJHvO, RH, PFC, MYT, CH, MH, GKT, NWW,
SNH, FB, JKK, CB, B. vd. W., HL, MS, DT, MEW, HPN SMD, AHN; Methodology: JP, AT, VC,
H. Hengel, GD, CR, AV, BM; Supervision: LS, H. Hen-gel, TBH, H. Houlden; Visualization …