Adult onset hereditary spastic paraplegia

Gene: ADAR

I don't know

Childhood onset. Small number of patients present with pure spastic paraplegic. Spasticity is a common feature of patients with Aicardi-Goutieres syndrome 6.

Created: 3 May 2019, 1:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 25243380
• 25604658

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.

Created: 21 May 2019, 4:14 p.m.

Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 4:50 p.m.

Green List (high evidence)

victoria: Patients with dyschromatosis symmetrica hereditaria (DSH;127400) have pinpoint, pea-sized hyperpigmented and hypopigmented macules on the backs of their hands and the tops of their feet. The face is spared apart from a few scattered small discrete pigmented macules. These abnormalities are asymptomatic and do not affect the general health of the patient. Aicardi-Goutieres syndrome 6: intracranial calcification and severe developmental delay in all, leukodystrophy in most, and markedly elevated cerebrospinal fluid (CSF) interferon-alpha. Mild-to-moderate global developmental delay apparent in early infancy, limb tremor and stiffening, rigidity, loss of previous motor and other developmental skills, and severe dystonia or pure HSP in some cases.. Several publications.

Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400