TY  - JOUR
AU  - Petry-Schmelzer, Jan Niklas
AU  - Keller, Natalie
AU  - Karakaya, Mert
AU  - Wirth, Brunhilde
AU  - Fink, Gereon R.
AU  - Wunderlich, Gilbert
TI  - VPS13D : One Family, Same Mutations, Two Phenotypes
JO  - Movement disorders clinical practice
VL  - 8
IS  - 5
SN  - 2330-1619
CY  - New York, NY
PB  - Wiley
M1  - FZJ-2021-02118
SP  - 803-806
PY  - 2021
AB  - Here, we report two siblings with compound heterozygous variants in VPS13D but a considerable divergent phenotype highlighting the difficulties of phenotype–genotype correlation in this rare disease.A 19-year-old patient presented to our outpatient department with a five-year history of progressive gait impairment. Motor and cognitive development during childhood was described as normal. The patient visited a regular school and was able to participate in physical education until the onset of symptoms. There were no known neurologic diseases in the Caucasian family, consisting of five sisters (II.1–3, II.5, and II.6), and the patient (II.4). However, one younger sister (II.6) of the patient suffered from developmental delay and intellectual disability without further physical impairment, and the oldest sister (II.1) living separate from the family was supposed to have “gait problems”.
LB  - PUB:(DE-HGF)16
C6  - pmid:34307758
UR  - <Go to ISI:>//WOS:000647076200001
DO  - DOI:10.1002/mdc3.13232
UR  - https://juser.fz-juelich.de/record/892509
ER  -