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Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease
As the most frequent genes involved in AR-PD (PRKN, PINK1), the DAGLB-associated disease presents and evolves like typical PD. This work reinforces the fact that DAGLB is involved in early onset Parkinson disease, but given the fact that we identified a single patient among 684 index cases screened, we conclude that DAGLB is a very rare cause of early onset autosomal recessive Parkinson disease.
Motor neuron pathology in CANVAS due to RFC1 expansions
Motor neuron involvement was found for 24 of 38 patients (63. 1%).
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations
Subtle motor features, cognitive/behavioral changes, family history of dementia/ALS were suggestive clues for a genetic diagnosis.
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
This ataxia was firstly characterized in a large French family with slowly progressive cerebellar ataxia, accompanied by severe cognitive impairment and mental retardation in two young children.
Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually beginning between 13 and 25 years of age.
