Leukodystrophy - adult onset

Gene: POLR1C

I don't know

PMID: 33190326
- 1x adult homozygous for a missense

PMID: 34484918
- 1x 35 yr old born of consanguineous marriage
- homozygous for a missense
- HOWEVER it was noted that he did have pre-existing behavioural disturbances and ID in childhood. Therefore, white matter abnormalities may have been present at an earlier age but there is a lack of previous imaging

https://n.neurology.org/content/86/16_Supplement/P5.171
- 1x 42 yr old man presented with 10 years of slowly progressive dysarthria, cognitive decline for > 6 years, and more recent behavioral symptoms including depression, irritability and profound apathy. Perinatal and early developmental history were normal
- Younger brother developed behavioral problems at age 4, tremors age 5, gait ataxia in his teens, becoming wheelchair dependent in his 20s
- both homozygous for a missense variant

Created: 14 Sep 2021, 7:23 a.m. | Last Modified: 14 Sep 2021, 7:23 a.m.

Panel Version: 0.90

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 11, MIM# 616494

Publications

• 33190326
• 34484918

I don't know

Comment when marking as ready: Four adults from three families reported.

Created: 16 Sep 2021, 8:21 a.m. | Last Modified: 16 Sep 2021, 8:21 a.m.

Panel Version: 0.92

Generally paediatric onset disorder. I can only find one case report in a supplement of adult-onset.

Created: 20 Jun 2020, 7:33 a.m. | Last Modified: 20 Jun 2020, 7:33 a.m.

Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 11, MIM# 616494

Publications

• 26151409
• 32042905