This title appears in the Scientific Report :
2021
Please use the identifier:
http://hdl.handle.net/2128/28691 in citations.
Please use the identifier: http://dx.doi.org/10.1002/mdc3.13232 in citations.
VPS13D : One Family, Same Mutations, Two Phenotypes
VPS13D : One Family, Same Mutations, Two Phenotypes
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...
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Personal Name(s): | Petry-Schmelzer, Jan Niklas (Corresponding author) |
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Keller, Natalie / Karakaya, Mert / Wirth, Brunhilde / Fink, Gereon R. / Wunderlich, Gilbert | |
Contributing Institute: |
Kognitive Neurowissenschaften; INM-3 |
Published in: | Movement disorders clinical practice, 8 (2021) 5, S. 803-806 |
Imprint: |
New York, NY
Wiley
2021
|
PubMed ID: |
34307758 |
DOI: |
10.1002/mdc3.13232 |
Document Type: |
Journal Article |
Research Program: |
Decoding Brain Organization and Dysfunction |
Link: |
Get full text Published on 2021-04-27. Available in OpenAccess from 2022-04-27. |
Publikationsportal JuSER |
Please use the identifier: http://dx.doi.org/10.1002/mdc3.13232 in citations.
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”. |