SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (SPG73)

Question 1

What is  SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (SPG73)?

Accepted Answer

very rare (1 patient)

autosomal dominant

mutation in the CPT1C gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616282

Question 3

Which enzymes are involved?

Accepted Answer

Carnitine O-palmitoyltransferase 1, brain isoform

Disease	SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (SPG73)
Synonym	CARNITINE PALMITOYLTRANSFERASE 1C
OMIM	616282 OMIM = Online Mendelian Inheritance of Men
Orphanet	444099
Protein (UniProt)	Carnitine O-palmitoyltransferase 1, brain isoform
Gene locus	19q13.33
ICD	G11.4
Summary	very rare (1 patient) autosomal dominant mutation in the CPT1C gene
Laboratory findings
Symptoms	defect of walking, running, rising or climbing hyperreflexia muscle atrophy muscle weakness renal dysfunction, renal defects spastic paraplegia