Autosomal recessive spastic paraplegia type 20

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the <i>SPG20</i> gene (13q13.1), which encodes the protein spartin.

Cognitive impairment

Abnormality in the process of thought including the ability to process information.

Total: 2

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PMID (PMCID)
21171093	MIXED_SAMPLE	Adult
	Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.
	Rainier S, Albers JW, Dyck PJ, Eldevik OP, Wilcock S, Richardson RJ, Fink JK. Muscle Nerve. 2011;43(1):19-25.
	NTE-MND resembles Troyer syndrome, except that short stature, cognitive impairment, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND.
21171093	MIXED_SAMPLE	Adult
	Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.
	Rainier S, Albers JW, Dyck PJ, Eldevik OP, Wilcock S, Richardson RJ, Fink JK. Muscle Nerve. 2011;43(1):19-25.
	NTE-MND resembles Troyer syndrome, except that short stature, cognitive impairment, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND.