Complicated spastic paraplegia panel

Complicated spastic paraplegia panel

[65 genes]

TURNAROUND TIME: 6 WEEKS

ADAR ALDH18A1 ALS2 AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARL6IP1
ARSI ATL1 B4GALNT1 BICD2 BSCL2 C12orf65 C19orf12 CCT5 CSF1R CYP27A1
CYP2U1 CYP7B1 DARS2 DDHD1 DDHD2 ENTPD1 ERLIN2 FA2H FLRT1 GBA2
GFAP GJC2 IBA57 IFIH1 KCNA2 KIF1A KIF1C KIF5A L1CAM MARS
MARS2 NIPA1 NT5C2 PGAP1 PLP1 PNPLA6 RAB3GAP2 REEP1 RNASEH2B SACS
SETX SLC16A2 SLC2A1 SPAST SPART SPG11 SPG21 SPG7 TECPR2 TFG
USP8 VAMP1 VPS37A WDR48 ZFYVE26
ADAR ALDH18A1 ALS2 AMPD2
AP4B1 AP4E1 AP4M1 AP4S1
AP5Z1 ARL6IP1 ARSI ATL1
B4GALNT1 BICD2 BSCL2 C12orf65
C19orf12 CCT5 CSF1R CYP27A1
CYP2U1 CYP7B1 DARS2 DDHD1
DDHD2 ENTPD1 ERLIN2 FA2H
FLRT1 GBA2 GFAP GJC2
IBA57 IFIH1 KCNA2 KIF1A
KIF1C KIF5A L1CAM MARS
MARS2 NIPA1 NT5C2 PGAP1
PLP1 PNPLA6 RAB3GAP2 REEP1
RNASEH2B SACS SETX SLC16A2
SLC2A1 SPAST SPART SPG11
SPG21 SPG7 TECPR2 TFG
USP8 VAMP1 VPS37A WDR48
ZFYVE26
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.

 

NEUROLOGY PORTFOLIO


STUDY REQUEST
Select the panel you wish to request


INFORMED CONSENT
Required document in order to perform the study


VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

Este sitio web utiliza cookies para que usted tenga la mejor experiencia de usuario. Si continúa navegando está dando su consentimiento para la aceptación de las mencionadas cookies y la aceptación de nuestra política de cookies, pinche el enlace para mayor información