Spastic Paraplegia 6, Autosomal Dominant; Spg6

Description

Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.

Clinical Features

Top most frequent phenotypes and symptoms related to Spastic Paraplegia 6, Autosomal Dominant; Spg6

  • Seizures
  • Milia
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Gait disturbance
  • Tremor
  • Babinski sign
  • Pes cavus
  • Clonus
And another 16 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Spastic Paraplegia 6, Autosomal Dominant; Spg6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HSP, Supplemental Dominant Evaluation.

By Athena Diagnostics Inc in United States.

HSPD1, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2
Specificity
17 %
Genes
100 %
HSP, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

HSPD1, REEP1, SPG7, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
HSP, Supplemental Sporadic Evaluation.

By Athena Diagnostics Inc in United States.

HSPD1, REEP1, PLP1, SACS, ATL1, ZFYVE26, SPG11, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
HSP, Complete Dominant Evaluation.

By Athena Diagnostics Inc in United States.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2
Specificity
10 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, FARS2, GJC2, PLP1, SLC2A1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
NIPA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NIPA1
Specificity
100 %
Genes
100 %
Hereditary spastic paraplegia AD (NGS panel for 10 genes).

By CGC Genetics in Portugal.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, ZFYVE27
Specificity
10 %
Genes
100 %
Spastic paraplegia 6 (SPG6, sequence analysis of NIPA1 gene).

By CGC Genetics in Portugal.

NIPA1
Specificity
100 %
Genes
100 %
Hereditary spastic paraplegia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

C12orf65, HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Spastic Paraplegia 6 via NIPA1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NIPA1
Specificity
100 %
Genes
100 %
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HSPD1, REEP1, SPG7, FARS2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, NIPA1, SLC33A1, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1, BICD2, ERLIN1, REEP2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, HSPD1, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, FARS2, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Spastic paraplegia 6.

By Centogene AG - the Rare Disease Company in Germany.

NIPA1
Specificity
100 %
Genes
100 %
Spastic paraplegia AD panel.

By Centogene AG - the Rare Disease Company in Germany.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, ZFYVE27
Specificity
10 %
Genes
100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

ABHD12, HSPD1, ALDH18A1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, REEP2, CPT1C, ZFYVE27, KANK1, ATP2B4
Specificity
6 %
Genes
100 %
Hereditary Spastic Paraplegia.

By Asper Biogene Asper Biogene LLC in Estonia.

HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel.

By Invitae in United States.

HSPD1, ALDH18A1, REEP1, ATL1, SPAST, KIF5A, NIPA1, BSCL2, WASHC5, RTN2, KIF1A, VAMP1
Specificity
9 %
Genes
100 %
Invitae Hereditary Spastic Paraplegia Comprehensive Panel.

By Invitae in United States.

C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
SPASTIC PARAPLEGIA A.D..

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, ZFYVE27
Specificity
10 %
Genes
100 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Spastic Paraplegia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

OPA3, REEP1, SPG7, ABCD1, ACOX1, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
NIPA1.

By Fulgent Genetics Fulgent Genetics in United States.

NIPA1
Specificity
100 %
Genes
100 %
Spastic Paraplegia Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, C12orf65, HSPD1, AFG3L2, SPR, REEP1, SPG7, ABCD1, PAH, GALC, SLC25A15, L2HGDH, GBE1, FXN, CYP27A1, FARS2, GJC2, PLP1, SACS , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Autosomal dominant spastic paraplegia type 6.

By Bioarray in Spain.

NIPA1
Specificity
100 %
Genes
100 %
SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, ZFYVE27
Specificity
10 %
Genes
100 %
Spastic paraplegia panel, autosomal dominant.

By LifeLabs Genetics in Canada.

POLG, HSPD1, REEP1, POLG2, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, ZFYVE27
Specificity
8 %
Genes
100 %
Familial Spastic Paraplegia Type 6 , Sequencing NIPA1 Gene.

By Reference Laboratory Genetics in Spain.

NIPA1
Specificity
100 %
Genes
100 %
Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5
Specificity
12 %
Genes
100 %
Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Hereditary Spastic Paraplegia: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

C12orf65, HSPD1, REEP1, GAD1, GJC2, PLP1, ATL1, ZFYVE26, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1, FA2H , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %

Alternate names

Spastic Paraplegia 6, Autosomal Dominant; Spg6 Is also known as familial spastic paraplegia, autosomal dominant, 3;fsp3;spg6.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 2A; WS2A

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more