Cerebral Palsy, Spastic Quadriplegic, 1; Cpsq1

Description

Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). The most common forms result from factors surrounding difficulties before or at birth, such as severe perinatal asphyxia, congenital infection, prematurity, and multiple pregnancy (Blair and Stanley, 1988; Stanley, 1994). More rarely, familial clustering or absence of pre- or postpartum events indicate that there are genetic forms of the disorder (Lynex et al., 2004).Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic (OMIM ), and mixed (Gustavson et al., 1969). Genetic Heterogeneity of Spastic Quadriplegic Cerebral PalsySee also CPSQ2 (OMIM ), caused by deletion of the ANKRD15 gene (KANK1 ) inherited on the paternal allele, and CPSQ3 (OMIM ), caused by mutation in the ADD3 gene (OMIM ) on 10q24.Related phenotypes that were formerly classified in the CPSQ series include spastic paraplegia-47 (SPG47 ), spastic paraplegia-50 (SPG50 ), spastic paraplegia-51 (SPG51 ), and spastic paraplegia-52 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebral Palsy, Spastic Quadriplegic, 1; Cpsq1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Spasticity
  • Flexion contracture
  • Hyperreflexia
And another 7 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Cerebral Palsy, Spastic Quadriplegic, 1; Cpsq1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
3 %
Genes
100 %
ADD3.

By Fulgent Genetics Fulgent Genetics in United States.

ADD3
Specificity
100 %
Genes
34 %
Inherited congenital spastic tetraplegia (sequence analysis of KANK1 gene).

By CGC Genetics in Portugal.

KANK1
Specificity
100 %
Genes
34 %
Inherited congenital spastic tetraplegia (sequence analysis of KANK1 gene).

By CGC Genetics in Portugal.

KANK1
Specificity
100 %
Genes
34 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
34 %
Nephrotic Syndrome via the KANK1 Gene.

By PreventionGenetics PreventionGenetics in United States.

KANK1
Specificity
100 %
Genes
34 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
34 %
Cerebral palsy type 2, spastic quadriplegic.

By Centogene AG - the Rare Disease Company in Germany.

KANK1
Specificity
100 %
Genes
34 %
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
67 %
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
34 %
KANK1.

By Fulgent Genetics Fulgent Genetics in United States.

KANK1
Specificity
100 %
Genes
34 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
34 %
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
34 %
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
34 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
34 %
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
34 %
Cerebral palsy type 1, spastic quadriplegic.

By Centogene AG - the Rare Disease Company in Germany.

GAD1
Specificity
100 %
Genes
34 %
Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

ABHD12, C12orf65, ALDH18A1, SPG7, GAD1, GJC2, PLP1, ZFYVE26, SPG11, L1CAM, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, TFG, GAN , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
Invitae Neurotransmitter Disorders Panel.

By Invitae in United States.

ABAT, SPR, SLC25A22, GCSH, GLDC, AMT, GAD1, MAOA, ALDH5A1, ALDH7A1, PTS, QDPR, TH, PHGDH, GCH1, PNPO, ARHGEF9, DBH, DDC, SLC6A3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
SPASTIC PARAPLEGIA A.R.

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

C12orf65, SPG7, GAD1, GJC2, ZFYVE26, SPG11, L1CAM, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, C19orf12, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
34 %
GAD1.

By Fulgent Genetics Fulgent Genetics in United States.

GAD1
Specificity
100 %
Genes
34 %
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
34 %

Alternate names

Cerebral Palsy, Spastic Quadriplegic, 1; Cpsq1 Is also known as ;inherited congenital spastic quadriplegia; spastic quadriplegic cerebral palsy.



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