Spastic paraplegia 4
Classification according to ICD-10 | |
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G11.4 | Hereditary spastic paraplegia |
ICD-10 online (WHO version 2019) |
The spastic paraplegia 4 (SPG4) is a hereditary disease of man, to the group of hereditary spastic paraplegia part (HSP).
Clinical picture
The disease is characterized by slowly progressive spastic paralysis of the legs. The age of onset is variable and ranges from childhood to late adulthood. The disease usually leads to loss of mobility within two decades.
In addition to spastic paraplegia, other symptoms such as the urge to urinate , hyperreflexia of the upper extremities and muscular atrophy of the lower extremities can occur , especially with increasing duration of the disease . SPG4 is mostly classified as pure HSP , since complex neurological symptoms beyond paraparesis are rare. In individual cases, complex phenotypes with additional cerebellar ataxia , epileptic seizures , a narrow corpus callosum and mental retardation have been described. If such symptoms occur, the disease is classified as a complicated HSP .
Cause, inheritance and frequency
The disease is inherited as an autosomal dominant trait. The cause are gene mutations in the SPAST gene , which codes for the protein spastin . The SPG4 is the most common of the autosomal - dominant pure spastic paraplegia hereditary. It accounts for 40–45% of the diagnoses in this group.
Diagnosis and therapy
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).