Childhood onset hereditary spastic paraplegia

Gene: ADAR

Green List (high evidence)

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, 1:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 25243380
• 25604658

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 4:54 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: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Onset in infancy or early childhood

Created: 14 Jan 2019, 3:58 p.m.