Early-onset Dementia

Gene: GBA

I don't know

Mini review of 29 studies confirmed the strong association between GBA1 mutations and DLB (Odds Ratio [OR]: 8.28).

Clinical research suggests that GBA1 mutation carriers present a more severe phenotype across the spectrum of LB disorders, with an earlier age at symptom onset, more severe motor and cognitive dysfunction, more visual hallucinations and REM sleep disorders. Neuropathological studies show that GBA1 mutations are associated with pathologically “purer” LB disorders, characterised by a more diffuse pattern of LB distribution involving the cerebral cortex, and less severe AD pathological findings.

Created: 28 Jun 2024, 1:19 a.m. | Last Modified: 28 Jun 2024, 1:19 a.m.

Panel Version: 1.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Lewy body dementia, susceptibility to} (MIM# 127750)

Publications

• 36084847

I don't know

PMID: 23588557; 32439597; 31010158: risk factor based on GWAS

Created: 4 Jun 2020, 3:09 a.m. | Last Modified: 4 Jun 2020, 3:09 a.m.

Panel Version: 0.48

Mode of inheritance
Other

Phenotypes
{Lewy body dementia, susceptibility to} (MIM# 127750)

Publications

• PMID: 23588557
• 32439597
• 31010158