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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Association of heterozygous variants in the GBA ge ...
Association of heterozygous variants in the GBA gene with lewy body dementia
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The document discusses a case study involving a 55-year-old male patient with a neurocognitive disorder. The patient presented symptoms such as headache, hallucinations, and tremors. A heterozygous variant in the GBA gene, specifically the c.1604G>A mutation, was identified. This mutation is associated with dementia with Lewy bodies, Gaucher disease, and/or Parkinson's disease.<br /><br />The importance of an accurate diagnosis is emphasized for targeted treatment, follow-up, prognosis, and genetic counseling. Next-generation sequencing and copy number variant analysis were performed on 473 genes associated with neurodegenerative diseases to assist in diagnosis and genetic counseling.<br /><br />Gene therapy is mentioned as a potential therapeutic approach for neurodegenerative diseases. Clinical trials are currently underway to test the safety and efficacy of Ambroxol, a drug that aims to modify the underlying causes of dementia with Lewy bodies and treat cognitive impairments associated with the disease.<br /><br />The document also provides references to relevant research articles on the subject, including studies on the genetic and clinical aspects of GBA gene mutations, mitochondrial dysfunction, and gene therapy for neurodegenerative diseases.<br /><br />In conclusion, the case study highlights the association of a heterozygous variant in the GBA gene with dementia with Lewy bodies and emphasizes the need for accurate diagnosis and targeted treatment. The potential of gene therapy and ongoing clinical trials using Ambroxol as a disease-modifying treatment are also discussed.
Asset Subtitle
Co-Author - Diana Blandon, MS; Presenting Author - Lina J. Moreno-Giraldo, MD, MSc, PhD;
Meta Tag
Biochemical genetics
Clinical History
Cognitive Disorders
Genetic Testing
Genome sequencing
Genotype-Phenotype Correlations
Identification of Disease Genes
NextGen Sequencing
Co-Author
Diana Blandon, MS
Presenting Author
Lina J. Moreno-Giraldo, MD, MSc, PhD
Keywords
neurocognitive disorder
GBA gene
dementia with Lewy bodies
Parkinson's disease
accurate diagnosis
genetic counseling
gene therapy
clinical trials
Ambroxol
mitochondrial dysfunction
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