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Spastic Paraplegia 8.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Aug 13 [updated 2013 Jul 25].

Author information

Departments of Pediatrics and Genetics, Stanford University, Stanford, California
Center of Excellence in Neuromics, Université de Montréal, CHUM Research Center - Notre-Dame Hospital, Montreal, Canada
Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada



Hereditary spastic paraplegia 8 (SPG8) is a pure hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of the lower limbs (i.e., hyperreflexia and clonus) with onset between ages 18 and 59 years (average: 37.2 years in one study). Other findings can include weakness with muscle wasting of the lower limbs, urinary urgency, and decreased vibration sense. Affected individuals often become wheelchair dependent.


Sequence analysis of WASHC5 (formerly KIAA0196), which encodes the protein WASH complex subunit strumpellin, detected a pathogenic variant in five of five families that mapped to the SPG8 locus.


Treatment of manifestations: Spasticity is managed with physical therapy, assistive walking devices, ankle-foot orthotics, and medications that reduce clonus and muscle tightness. Prevention of secondary complications: Bladder function should be routinely monitored to avoid urinary tract infections. Surveillance: Regular neurologic examinations to evaluate disease progression; referral to urology for urodynamic testing and follow up when symptoms appear.


SPG8 is inherited in an autosomal dominant manner. More than 90% of affected individuals have an affected parent. Each child of an individual with SPG8 has a 50% chance of inheriting the pathogenic variant. If the pathogenic variant in the family is known, prenatal testing for pregnancies at increased risk is possible through laboratories offering either testing for the gene of interest or custom testing.

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