Spastic paraplegia comprehensive panel

Spastic paraplegia comprehensive panel

[76 genes]

TURNAROUND TIME: 6 WEEKS

ABCD1 ADAR ALDH18A1 ALDH3A2 ALS2 AMPD2 AP4B1 AP4E1 AP4M1 AP4S1
AP5Z1 ARL6IP1 ARSI ATL1 ATP2B4 B4GALNT1 BICD2 BSCL2 C12orf65 C19orf12
CCT5 CSF1R CYP27A1 CYP2U1 CYP7B1 DARS2 DDHD1 DDHD2 ENTPD1 ERLIN1
ERLIN2 FA2H FLRT1 GBA2 GFAP GJC2 HSPD1 IBA57 IFIH1 KCNA2
KIF1A KIF1C KIF5A L1CAM MARS MARS2 NIPA1 NT5C2 PGAP1 PLP1
PNPLA6 RAB3GAP2 REEP1 REEP2 RNASEH2B RTN2 SACS SETX SLC16A2 SLC2A1
SLC33A1 SPAST SPART SPG11 SPG21 SPG7 TECPR2 TFG USP8 VAMP1
VPS37A WASHC5 (KIAA0196) WDR48 ZFR ZFYVE26 ZFYVE27
ABCD1 ADAR ALDH18A1 ALDH3A2
ALS2 AMPD2 AP4B1 AP4E1
AP4M1 AP4S1 AP5Z1 ARL6IP1
ARSI ATL1 ATP2B4 B4GALNT1
BICD2 BSCL2 C12orf65 C19orf12
CCT5 CSF1R CYP27A1 CYP2U1
CYP7B1 DARS2 DDHD1 DDHD2
ENTPD1 ERLIN1 ERLIN2 FA2H
FLRT1 GBA2 GFAP GJC2
HSPD1 IBA57 IFIH1 KCNA2
KIF1A KIF1C KIF5A L1CAM
MARS MARS2 NIPA1 NT5C2
PGAP1 PLP1 PNPLA6 RAB3GAP2
REEP1 REEP2 RNASEH2B RTN2
SACS SETX SLC16A2 SLC2A1
SLC33A1 SPAST SPART SPG11
SPG21 SPG7 TECPR2 TFG
USP8 VAMP1 VPS37A WASHC5 (KIAA0196)
WDR48 ZFR ZFYVE26 ZFYVE27
RELATED PHENOTYPES
Adrenoleukodystrophy ABCD1
Spastic ataxia VAMP1, KIF1C, MARS2, KCNA2
Spastic ataxia, Charlevoix-Saguenay-type SACS
GLUT1 deficiency SLC2A1
Amyotrophic lateral sclerosis ALS2, FIG4, SETX
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation DARS2
Hereditary diffuse leukoencephalopathy with spheroids CSF1R
Sensory neuropathy in hereditary spastic paraplegia CCT5
Aicardi-Goutières syndrome RNASEH2B, ADAR, IFIH1
Alexander disease GFAP
Sjögren-Larsson syndrome ALDH3A2
Cerebrotendinous xanthomatosis CYP27A1

LOCI INCLUDED:
| SPG1 | SPG2 | SPG3A | SPG4 | SPG5A | SPG6 | SPG7 | SPG8 | SPG9A | SPG10 | SPG11 | SPG12 | SPG13 | SPG15 | SPG17 | SPG18 | SPG20 | SPG21 | SPG22 | SPG26 | SPG28 | SPG30 | SPG31 | SPG33 | SPG35 | SPG39 | SPG42 | SPG43 | SPG44 | SPG45 | SPG46 | SPG47 | SPG48 | SPG49 | SPG50 | SPG51 | SPG52 | SPG53 | SPG54 | SPG55 | SPG56 | SPG57 | SPG58 | SPG59 | SPG60 | SPG61 | SPG62 | SPG63 | SPG64 | SPG65 | SPG66 | SPG67 | SPG68 | SPG69 | SPG70 | SPG71 | SPG72 | SPG74 |

  • 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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