SPAST gene related symptoms and diseases

All the information presented here about the SPAST gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SPAST gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Progressive spastic paraplegia Very Common - Between 80% and 100% cases
Lower limb spasticity Very Common - Between 80% and 100% cases
Progressive muscle weakness Very Common - Between 80% and 100% cases
Spastic gait Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPAST gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Paraparesis
  • Spastic paraparesis
  • Hyperkinesis
  • Apathy
  • Impaired vibratory sensation
  • Brisk reflexes
  • Agitation
  • Urinary urgency

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SPAST gene

Here you will find a list of rare diseases related to the SPAST. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4

Alternate names

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4 Is also known as familial spastic paraplegia, autosomal dominant, 2, spg4, fsp2

Description

Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4

SOURCES: ORPHANET OMIM MESH


Potential gene panels for SPAST gene

HSP, Common Dominant Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Common Dominant Evaluation that also includes the following genes: ATL1 SPAST REEP1 KIF5A

More info about this panel
United States.

HSP, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART

More info about this panel
United States.

SPG4 Evaluation Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the SPAST gene.

More info about this panel
United States.

HSP, Common Sporadic Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Common Sporadic Evaluation that also includes the following genes: SPAST SPG7

More info about this panel
United States.

HSP, Complete Dominant Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Complete Dominant Evaluation that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A SLC33A1

More info about this panel
United States.

Hereditary Spastic Paraplegia Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG

More info about this panel
United States.

Hereditary Spastic Paraplegia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1

More info about this panel
United States.

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

Spastic Paraplegia 4 Panel

New Zealand.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital

This panel specifically test the SPAST gene.

More info about this panel
New Zealand.

Hereditary Spastic Paraplegia 4 Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the SPAST gene.

More info about this panel
United Kingdom.

Spastin (SPAST) gene sequencing test Panel

Cyprus.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics

This panel specifically test the SPAST gene.

More info about this panel
Cyprus.

Spastin (SPAST) and Atlastin (ATL1) gene dosage evaluation by MLPA analysis Panel

Cyprus.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics Spastin (SPAST) and Atlastin (ATL1) gene dosage evaluation by MLPA analysis that also includes the following genes: ATL1 SPAST

More info about this panel
Cyprus.

SPG4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SPAST gene.

More info about this panel
Spain.

SPG4. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SPAST gene.

More info about this panel
Spain.

Spastic paraplegia 3A and 4 (SPG3A/SPG4, deletion/duplication analysis of ATL1 and SPAST genes) Panel

Portugal.

By CGC Genetics Spastic paraplegia 3A and 4 (SPG3A/SPG4, deletion/duplication analysis of ATL1 and SPAST genes) that also includes the following genes: ATL1 SPAST

More info about this panel
Portugal.

Spastic Paraplegia 4 (sequence analysis of SPAST gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SPAST gene.

More info about this panel
Portugal.

Hereditary spastic paraplegia AD (NGS panel for 10 genes) Panel

Portugal.

By CGC Genetics Hereditary spastic paraplegia AD (NGS panel for 10 genes) that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A SLC33A1

More info about this panel
Portugal.

Hereditary spastic paraplegia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1

More info about this panel
Portugal.

Spastic Paraplegia 4 via SPAST Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SPAST gene.

More info about this panel
United States.

Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 CAPN1 ERLIN1 NIPA1 BICD2 ZFR

More info about this panel
United States.

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8

More info about this panel
United States.

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1

More info about this panel
United States.

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel
United States.

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel
Germany.

SPAST Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SPAST gene.

More info about this panel
Germany.

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel
Germany.

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel

Germany.

By MGZ Medical Genetics Center Neurodegeneration with Brain Iron Accumulation (NBIA) that also includes the following genes: ATL1 SPAST PANK2 FA2H CP C19orf12 DCAF17 IBA57 WDR45 ATP13A2

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

SPASTIC PARAPLEGIA 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SPAST gene.

More info about this panel
Germany.

Spastic paraplegia AD panel Panel

Germany.

By Centogene AG - the Rare Disease Company Spastic paraplegia AD panel that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A

More info about this panel
Germany.

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel
Germany.

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel
Germany.

Single gene testing SPAST Panel

Germany.

By CeGaT GmbH

This panel specifically test the SPAST gene.

More info about this panel
Germany.

Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel that also includes the following genes: RTN2 ATL1 SPAST BSCL2 ABHD12 NIPA1 REEP2 CPT1C KANK1 REEP1

More info about this panel
Germany.

Hereditary Spastic Paraplegia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hereditary Spastic Paraplegia that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ERLIN2 BSCL2 PNPLA6 NIPA1

More info about this panel
Estonia.

Spastic paraplegia, SPG4 (SPAST) sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the SPAST gene.

More info about this panel
United States.

Spastic Paraplegia 4 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SPAST gene.

More info about this panel
Austria.

SPG4 Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the SPAST gene.

More info about this panel
Colombia.

Spastic Paraplegia 4 Panel

Slovakia.

By MedGene

This panel specifically test the SPAST gene.

More info about this panel
Slovakia.

Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel Panel

United States.

By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel that also includes the following genes: RTN2 ATL1 SPAST VAMP1 BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A

More info about this panel
United States.

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

United States.

By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2

More info about this panel
United States.

Spastic paraplegia 4: SPG4 (SPAST) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SPAST gene.

More info about this panel
Spain.

Spastic paraplegia 4: SPG4 gene deletions/duplications (MLPA) analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SPAST gene.

More info about this panel
Spain.

SPASTIC PARAPLEGIA A.D. Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPASTIC PARAPLEGIA A.D. that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A SLC33A1

More info about this panel
Spain.

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel
United States.

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel
United States.

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel
United States.

Spastic Paraplegia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART

More info about this panel
United States.

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel
United States.

SPAST Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SPAST gene.

More info about this panel
United States.

Spastic Paraplegia Panel Panel

Finland.

By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR

More info about this panel
Finland.

Amyotrophic Lateral Sclerosis Panel Panel

Finland.

By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP

More info about this panel
Finland.

Paraplej���­a esp���¡stica autos���³mica dominante tipo 4 Panel

Spain.

By Bioarray

This panel specifically test the SPAST gene.

More info about this panel
Spain.

SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT) that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A

More info about this panel
Spain.

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP

More info about this panel
Spain.

Spastic paraplegia panel, autosomal dominant Panel

Canada.

By LifeLabs Genetics Spastic paraplegia panel, autosomal dominant that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A

More info about this panel
Canada.

Familial Spastic Paraplegia Type 4 , Sequencing SPAST Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SPAST gene.

More info about this panel
Spain.

Familial Spastic Paraplegia Type 4, Deletions-Duplications (MLPA) SPG4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SPAST gene.

More info about this panel
Spain.

Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A SLC33A1

More info about this panel
Spain.

Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 GJC2 SPART ZFYVE26

More info about this panel
Spain.

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel
Spain.

Hereditary Spastic Paraplegia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Spastic Paraplegia: gene sequencing panel that also includes the following genes: RTN2 SLC16A2 ATL1 SPAST ERLIN2 BSCL2 NIPA1 GJC2 SPART GBA2

More info about this panel
Canada.

Spastic Paraplegia 4: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SPAST gene.

More info about this panel
Canada.

Spastic Paraplegia 4: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SPAST gene.

More info about this panel
Canada.

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