Pure spastic paraplegia panel

Pure spastic paraplegia panel

[28 genes]

TURNAROUND TIME: 6 WEEKS

ABCD1 AP5Z1 ATL1 ATP2B4 BSCL2 CYP2U1 CYP7B1 DDHD1 ERLIN1 HSPD1
IFIH1 KIF1A KIF1C KIF5A NIPA1 NT5C2 PLP1 REEP1 REEP2 RNASEH2B
RTN2 SLC33A1 SPAST SPG11 SPG7 WASHC5 (KIAA0196) ZFR ZFYVE27
ABCD1 AP5Z1 ATL1 ATP2B4
BSCL2 CYP2U1 CYP7B1 DDHD1
ERLIN1 HSPD1 IFIH1 KIF1A
KIF1C KIF5A NIPA1 NT5C2
PLP1 REEP1 REEP2 RNASEH2B
RTN2 SLC33A1 SPAST SPG11
SPG7 WASHC5 (KIAA0196) ZFR ZFYVE27
Hereditary spastic paraplegia has an estimated prevalence of 1.8/100 000. Genetic cause is identified in 33%-55% of families with autosomal dominant inheritance (AD-SP) and in 18%-29% of families with autosomal recessive inheritance (AR-SP). The most frequent form of AD-SP is SPG4 (SPAST), accounting for 40% of AD-SP forms and 20% of sporadic forms (Ruano et al., 2014). SPG3A (ATL1) is the cause of 10%-15% of AD-SP cases (up to 40% in SPG4-negative cohorts), with the most frequent form starting in the first decade of life (Giudice et al., 2014). SPG11 is the most common cause of AR-SP (20%-50%) (Stevanin et al., 2008).
Anita Harding’s historical description distinguishes pure and complicated forms (Harding, 1983). The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations. Complicated forms comprise several clinical entities combining spastic paraplegia with other neurological/non-neurological signs such as cerebellar ataxia, optic atrophy, retinitis pigmentosa, thinning of the corpus callosum, neuropathy, or epilepsy, among others.
REFERENCES
  1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet. 1983 May 21;1(8334):1151-5.
  2. Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol. 2014 Nov;261:518-39.
  3. Ruano L, Melo C, Silva MC, Coutinho P. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014;42(3):174-83.
  4. Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M et al. SPATAX consortium. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain. 2008 Mar;131(Pt 3):772-84.

 

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