Hereditary neuropathy or pain disorder

Gene: PCYT2

Red List (low evidence)

PMID:35243002 reported two brothers with a novel homozygous missense variant in the first catalytic domain of PCYT2 (c.88T>G/ p.Cys30Gly). Although these two patients shared several phenotypic features with previously reported patients with syndromic spastic paraplegia including short stature, spastic tetraparesis, cerebellar ataxia, epilepsy, and cognitive decline, axonal polyneuropathy reported in these two brothers were not reported in any previous cases.

Created: 7 Jan 2024, 12:03 a.m. | Last Modified: 7 Jan 2024, 12:05 a.m.

Panel Version: 3.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 82, autosomal recessive, OMIM:618770; axonal neuropathy, MONDO:0004183

Publications

• 35243002

I don't know

Two brother with axonal neuropathy reported in PMID: 35243002. In the same study, after reviewing previously published cases, other individuals (2/10) had sensory deficit / neuropathy: "Of 5 previously reported adult patients (age range of 20–59 years),2-6 nerve conduction studies were performed in 2 of them and reported as normal.3,4 Clinically, one of them had hypopallesthesia of the ankles,4 and the other had loss of vibration sense in the lower limbs and mild loss of proprioception in the feet".
Sources: Literature

Created: 19 Mar 2022, 8:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• PMID: 35243002