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GENATLAS PHENOTYPE

last update : 08-10-2013

Symbol	SPG9
Location	10q24.1
HGNC id	11239
Name	spastic paraparesis 9
Other name(s)	cataracts with motor neuronopathy, short stature, and skeletal abnormalities
Corresponding gene	ALDH18A1
Other symbol(s)	SPG9A
Main clinical features	onset of slowly progressive spasticity mainly affecting the lower limbs; the age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria complicated spastic paraplegia associated with cataracts, gastroesophageal reflux, and motor neuronopathy cataracts and motor neuronopathy with upper motor neuron signs, short stature, developmental delay, and skeletal abnormalities
Genetic determination	autosomal dominant
Function/system disorder	eye
	neuromuscular
	neurology
Type	disease

Remark(s)

recurrent de novo mutations, affecting the highly conserved residue Arg138 of ALDH18A1, cause an autosomal-dominant form of cutis laxa with progeroid features (PMID: 26320891))