Childhood onset dystonia, chorea or related movement disorder

Gene: PRNP

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 1:08 p.m. | Last Modified: 26 Sep 2024, 1:08 p.m.

Panel Version: 5.3

Comment on list classification: Given that the age of onset associated with the multiple phenotypes related to this gene is almost always in adulthood and poses risk of incidental findings, inclusion of PRNP on this panel should be reviewed by the GMS specialist group.

Created: 12 Mar 2024, 4:02 p.m. | Last Modified: 12 Mar 2024, 4:04 p.m.

Panel Version: 3.74

PRNP is associated with multiple disorders some of which feature motor impairments including Gerstmann-Straussler disease (OMIM:137440), Cerebral amyloid angiopathy (OMIM:137440), Creutzfeldt-Jakob disease (OMIM:123400), Huntington disease-like 1 (OMIM:603218).

All of these disorders typically present in adulthood, however very rare cases of age at onset from the second decade of life have been reported, particularly for Creutzfeldt-Jakob disease - however it is worth noting that PRNP analysis was not performed in most adolescent cases (PMID: 3064055; 3915979; 7031189; 1761107).

Literature search only revealed one confirmed familial case of PRNP-related prion disease where a single patient developed symptoms at 13 years of age (PMID:16831973).

Created: 12 Mar 2024, 3:59 p.m. | Last Modified: 12 Mar 2024, 3:59 p.m.

Panel Version: 3.71

Publications

• 16831973

Red List (low evidence)

Onset of symptoms is generally in adulthood.

Created: 10 Sep 2020, 7:28 a.m. | Last Modified: 10 Sep 2020, 7:28 a.m.

Panel Version: 1.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huntington disease-like 1, MIM# 603218

Green List (high evidence)