Spastic paraplegia 11

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Classification according to ICD-10
G11.4 Hereditary spastic paraplegia
ICD-10 online (WHO version 2019)

The spastic paraplegia 11 (SPG11) is an inherited disease of the people to the group of complicated hereditary spastic paraplegia belongs (HSP). In addition to the spastic paralysis of the legs ( spastic paraparesis ), which defines the disease group, a narrow corpus callosum ( TCC , thin corpus callosum ) is typical of this form .

Clinical picture

The age of onset is variable and ranges from 1 to 31 years. Usually, however, the disease manifests itself in children or at puberty.

The disease is characterized by progressive spastic paralysis of the legs (spastic paraparesis ) and intellectual limitations with learning difficulties. The intelligence quotient is reduced in all sick people with early manifestation. Occasionally, nystagmus , saccading gaze sequences , arched feet and scoliosis also occur. In individual cases, pseudobulbar symptoms with dysarthria and dysphagia , spasticity also of the upper extremities, bladder disorders and axonal motor or sensorimotor neuropathy have been described.

Those affected usually become wheelchair users within the first 10–20 years.

Cause, inheritance and frequency

The disease is autosomal - recessive inherited. The cause are gene mutations in the SPG11 gene , which codes for the protein spatacsin . With an estimated prevalence of 1: 100,000, SPG11 is one of the most common autosomal recessive hereditary spastic paraplegias.

Diagnosis and therapy

The differential diagnosis of other hereditary spastic paraplegia are concerned, where also a small corpus callosum (HSP-TCC, hereditary spastic paraplegia with thin corpus callosum) described: SPG15 , SPG21 , SPG32 and occasionally in the SPG4 and SPG7 . The narrow corpus callosum can be detected with magnetic resonance imaging .

The diagnosis can be confirmed by molecular genetics. No causal therapy is known.

literature

  • S. Salinas, C. Proukakis, A. Crosby, TT Warner: Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. In: The Lancet Neurology . Volume 7, Number 12, December 2008, pp. 1127-1138, ISSN  1474-4422 . doi : 10.1016 / S1474-4422 (08) 70258-8 . PMID 19007737 . (Review).
  • G. Stevanin et al.: Spastic Paraplegia Type 11. In: RA Pagon, TD Bird, CR Dolan, K. Stephens (Eds.): Source Gene Reviews. [Internet]. University of Washington, Seattle; 1993-2008 Mar 27 [updated 2009 Sep 03]. PMID 20301389 .