Hereditary Spastic Paraplegia - paediatric
Gene: NKX6-2
Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported.
Five unrelated families and a mouse model.Created: 14 Mar 2021, 5:22 a.m. | Last Modified: 14 Mar 2021, 5:22 a.m.
Panel Version: 0.186
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560
Publications
Gene: nkx6-2 has been classified as Green List (High Evidence).
Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; MONDO:0033043
Publications for gene: NKX6-2 were set to
gene: NKX6-2 was added gene: NKX6-2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560