Childhood onset hereditary spastic paraplegia

Gene: CPT1C

Comment on list classification: Overall one family with confirmed adult-onset and one with childhood-onset have been reported, as well as two further unrelated cases but unfortunately without indication of age of onset. Although onset is variable, the gene-disease relationship is supported by a strong animal model, and therefore it is worth including CPT1C on both HSP panels as Green.

Created: 22 Nov 2021, 4:36 p.m. | Last Modified: 22 Nov 2021, 4:36 p.m.

Panel Version: 2.104

Another family reported by Hong et al., 2019 (PMID: 30911584) including a sib pair with childhood-onset pure HSP. Both harboured a novel nonsense variant in the CPT1C gene which was also identified in the seemingly unaffected mother (except for hyperreflexia and a positive Babinski sign).

Created: 22 Nov 2021, 4:24 p.m. | Last Modified: 22 Nov 2021, 4:24 p.m.

Panel Version: 2.102

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• 30911584

Red List (low evidence)

And another family reported in PMID 25751282. However, note onset is in adulthood, and this gene is rated Amber on the adult HSP panel: suggest rating Green there.

Created: 18 Sep 2020, 7:30 a.m. | Last Modified: 18 Sep 2020, 7:30 a.m.

Panel Version: 2.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 73, autosomal dominant, 616282

Publications

• 25751282

I don't know

Adult onset. Mouse model. functional study. Single family. Two further patients in exome study (PMID: 30564185).

Created: 10 May 2019, 11:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 25751282
• 30564185

Variants in this GENE are reported as part of current diagnostic practice

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)

only one family reported but great animal model replicates the phenotype. affected members of a large 3-generation Italian family with autosomal dominant spastic paraplegia-73. In sheffield HSP panel

Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spastic paraplegia 73, autosomal dominant, 616282, AD