Parkinson Disease and Complex Parkinsonism

Gene: SPG11

Green List (high evidence)

Biallelic mutation cause hereditary spastic paraparesis with thinning of the corpus callosum (clinical features include early-onset involvement of corticospinal tract and muscle stiffness, followed by slow development of progressive spastic paraparesis, cognitive deterioration, predominantly axonal polyneuropathy, and motor symptoms. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism). This is the most common cause of aut recessive HSP. PMID: 19224311 (describes 2 patients with juvenile parkinsonism), 21381113 (one family with SPG11 and early onset parkinsonism, levo dopa responsve), 27820618 (responsive to deep brain stimulation and levo dopa. Complex parkinsonism. brain MRI and other associated clinical features would be needed to confirm a potential pathogenic mutation

Created: 14 Dec 2016, 5:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hereditary spastic paraparesis; early onset parkinsonism, levo dopa responsve; Complex parkinsonism

Publications

• 19224311
• 21381113
• 27820618

Comment on list classification: Promoted to green after discussion with Arianna.

Created: 8 Dec 2016, 3:28 p.m.

Comment on list classification: Spastic paraplegia 11 can include parkinsonism as a clincal characteristic, though it is less frequent (PMID: 20301389). This is a green gene on the Hereditary spastic paraplegia version 1.0 panel.

Created: 3 Nov 2016, 6:02 p.m.