Parkinson Disease and Complex Parkinsonism

Gene: SYNJ1

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early onset parkinsonism; Developmental and epileptic encephalopathy; Dystonia-parkinsonism accompanied by a frontal syndrome and oculomotor disturbances; Tonic-clonic seizures during childhood, severe intellectual disability, progressive parkinsonism

Publications

• PMID: 38853950 PMID: 36148638 PubMed: 23804563 PMID: 33841314 PubMed: 23804577 PubMed

Green List (high evidence)

PMID: 23804577, 23804563 (One biallelic missense mutation (p.Arg258Gln) reported in two Italian and one Iranian consanguineous families with autosomal recessive juvenile Parkinsonism), PMID: 27496670 (one indian consang family novel homozygous mutation (p.Arg459Pro) with juv parkinsonism. Keep this gene in both this gene to both the dystonia panel and pd. Also include this gene in ID / epilepsy panel? (biallelic mutations also just described in 3 families with early onset refractory seizures and progressive neurological decline: PMID 27435091.

Created: 14 Dec 2016, 5:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
juvenile Parkinsonism

Publications

• 23804577
• 23804563
• 27496670

Literature is mixed about whether SYNJ1 mutations are relevant (PMID:26149920 report that SYNJ1 mutations are not relevant in Taiwanese population). Mutations are present in some cohorts though even if rare: PMID:27496670 report a mutation (c.1376C > G, p.Arg459Pro) in an Indian family, in addition to the Iranian and Italian cases noted below.

Created: 10 Nov 2016, 4:28 p.m.

Comment on list classification: Confirmed with Arianna this should be green on complex parkinson panel. Recent publication with several families reported.

Created: 8 Dec 2016, 3:30 p.m.

Comment on list classification: Two family reports (Iranian and Italian) for the same variant. Need to carry out literature search to identify any further cases.

Created: 3 Nov 2016, 6:09 p.m.