Category: Genetics (Non-PD)
Objective: The current study was designed to investigate the genetic cause of atypical Parkinsonism is a multigenerational Pakistani family
Background: Hereditary Diffuse Leucoencephalopathy with axonal Spheroids (HDLs) is a neurodegenerative disease of white matter. Clinically diagnosis of HDLs is difficult because of overlapping symptoms with Parkinson’s disease and oftenly diagnosed as a typical Parkinsonism. Brain MRI shows white matter changes which is suggestive of leukodystrophy but is limited. HDLs is rare autosomal dominant neurodegenerative disease with no definitive diagnosis, however a range of mutation has been reported in CSF1R gene as the genetic cause of disease. Genetic testing and elucidating the cause of pathophysiology will add in the diagnosis.
Method: Whole genome sequencing (WGS) was performed for patient II:4 and III:1. Bioinformatics analysis and narrowing down the data identified potential candidates’ genes. All the genes were verified with sanger re-sequencing.
Results: We investigated a family with several patients exhibiting clinical symptoms consistent with a typical Parkinsonism. The clinical features include difficulty in movements and dementia with slow progression. White matter changes were observed in the MRI suggestive of leukodystrophy. Whole genome sequencing identified a heterozygous c. 1237 G >A, mutation in exon 9 of CSF1R p. 413G>S.
Conclusion: Neurodegenerative diseases are multifactorial and difficult to diagnose clinically. Genetic investigations will add in identifying hot spots for the quicker diagnosis and thus add in the diagnostic panel.
To cite this abstract in AMA style:
ANW. Ullah, MZB. Badshah. A novel G413S mutation in the CSF1R gene causes Hereditary Diffuse Leucoencephalopathy with axonal Spheroids; clinically overlapping features of Parkinsonism [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/a-novel-g413s-mutation-in-the-csf1r-gene-causes-hereditary-diffuse-leucoencephalopathy-with-axonal-spheroids-clinically-overlapping-features-of-parkinsonism/. Accessed October 12, 2024.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/a-novel-g413s-mutation-in-the-csf1r-gene-causes-hereditary-diffuse-leucoencephalopathy-with-axonal-spheroids-clinically-overlapping-features-of-parkinsonism/