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First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L.
Mov Disord Clin Pract 2019; 6(3):254-258MD

Abstract

Background

Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N-terminus part of GBA are less commonly found in association with PD than those in the C-terminus. Phenotypic characterization of GBA-related PD has been challenging, in part attributed to differential impact of distinct GBA mutations.

Aim

To provide a phenotypic description of two patients with PD heterozygous for the GBA mutation S107L. The S107L mutation is located in the catalytic domain of glucocerebrosidase and has not previously been reported in patients with PD.

Methods

Motor and nonmotor symptoms (NMS) of PD were evaluated using established rating scales and questionnaires. The genotype was determined by Sanger sequencing.

Results

Two half-brothers, both heterozygous carriers of S107L, exhibited an early PD onset with several NMS.

Conclusions

In these patients, heterozygosity for S107L was associated with an early onset of PD with NMS.

Authors+Show Affiliations

Section of Neurology, Department of Clinical Neuroscience Karolinska Institute Stockholm Sweden.Section of Neurology Södra Älvsborg Hospital Borås Sweden.Department of Clinical Neuroscience and Rehabilitation The Sahlgrenska Academy at University of Gothenburg Gothenburg Sweden.Hematology Center Karolinska and Department of Medicine Huddinge Karolinska Institutet, Karolinska University Hospital Huddinge Stockholm Sweden. Medical Faculty University of Rzeszow Rzeszow Poland.Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.Section of Neurology, Department of Clinical Neuroscience Karolinska Institute Stockholm Sweden.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

30949558

Citation

Hertz, Ellen, et al. "First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L." Movement Disorders Clinical Practice, vol. 6, no. 3, 2019, pp. 254-258.
Hertz E, Thörnqvist M, Holmberg B, et al. First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L. Mov Disord Clin Pract. 2019;6(3):254-258.
Hertz, E., Thörnqvist, M., Holmberg, B., Machaczka, M., Sidransky, E., & Svenningsson, P. (2019). First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L. Movement Disorders Clinical Practice, 6(3), pp. 254-258. doi:10.1002/mdc3.12743.
Hertz E, et al. First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L. Mov Disord Clin Pract. 2019;6(3):254-258. PubMed PMID: 30949558.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L. AU - Hertz,Ellen, AU - Thörnqvist,Måns, AU - Holmberg,Björn, AU - Machaczka,Maciej, AU - Sidransky,Ellen, AU - Svenningsson,Per, Y1 - 2019/03/07/ PY - 2018/09/09/received PY - 2019/01/28/revised PY - 2019/02/12/accepted PY - 2020/03/07/pmc-release PY - 2019/4/6/entrez PY - 2019/4/6/pubmed PY - 2019/4/6/medline KW - GBA KW - Parkinson's disease KW - genotype‐phenotype KW - glucocerebrosidase SP - 254 EP - 258 JF - Movement disorders clinical practice JO - Mov Disord Clin Pract VL - 6 IS - 3 N2 - Background: Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N-terminus part of GBA are less commonly found in association with PD than those in the C-terminus. Phenotypic characterization of GBA-related PD has been challenging, in part attributed to differential impact of distinct GBA mutations. Aim: To provide a phenotypic description of two patients with PD heterozygous for the GBA mutation S107L. The S107L mutation is located in the catalytic domain of glucocerebrosidase and has not previously been reported in patients with PD. Methods: Motor and nonmotor symptoms (NMS) of PD were evaluated using established rating scales and questionnaires. The genotype was determined by Sanger sequencing. Results: Two half-brothers, both heterozygous carriers of S107L, exhibited an early PD onset with several NMS. Conclusions: In these patients, heterozygosity for S107L was associated with an early onset of PD with NMS. SN - 2330-1619 UR - https://www.unboundmedicine.com/medline/citation/30949558/First_Clinicogenetic_Description_of_Parkinson's_Disease_Related_to_GBA_Mutation_S107L_ DB - PRIME DP - Unbound Medicine ER -