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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessSpastic paraplegia, uncomplicated ("pure"); differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Spastic Paraplegia, uncomplicated ("pure"), comprising 12 core/core candidate genes and altogether 20 curated genes according to the clinical signs

ID
SP6712
Number of genes
20 Accredited laboratory test
Examined sequence length
22,3 kb (Core-/Core-canditate-Genes)
43,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ADAR2796NM_001111.5AR
ATL11677NM_015915.5AD
DDHD12640NM_001160147.2AR
HSPD11722NM_002156.5AD, AR
NIPA1990NM_144599.5AD
REEP1606NM_022912.3AD
REEP2765NM_001271803.2AD, AR
RTN21638NM_005619.5AD
SLC33A11650NM_004733.4AD, AR
SPAST1851NM_014946.4AD
SPG72388NM_003119.4AR, AD
WASHC53480NM_014846.4AD
AP5Z12424NM_014855.3AR
ATP2B43513NM_001001396.3AD
CPT1C2379NM_001136052.3AD
ERLIN21020NM_007175.8AR
KIF1A5073NM_004321.8AD, AR
UBAP11966NM_001171201.1AD
USP83357NM_005154.5AR
ZFYVE271251NM_001002261.4AD

Informations about the disease

Clinical Comment

Uncomplicated HSP: genetically and clinically heterogeneous group of slowly progressive neurological disorders; in pure form with pyramidal signs (weakness, spasticity, brisk tendon reflexes, extensor plantar responses) predominantly affecting the lower limbs, possible association of sphincter disturbances + deep sensory loss

 

Synonyms
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Alias: Familial spastic paraplegia, FSP
  • Alias: Hereditary spastic paraparesis, HSP
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
  • Allelic: Myoclonus, intractable, neonatal (KIF5A)
  • Allelic: NESCAV syndrome (KIF1A)
  • Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Pituitary adenoma 4, ACTH-secreting, somatic (USP8)
  • Spastic paraplegia 10, AD (KIF5A)
  • Spastic paraplegia 12, AD (RTN2)
  • Spastic paraplegia 13, AD (HSPD1)
  • Spastic paraplegia 18, AR (ERLIN2)
  • Spastic paraplegia 28, AR (DDHD1)
  • Spastic paraplegia 30, AD (KIF1A)
  • Spastic paraplegia 30, AR (KIF1A)
  • Spastic paraplegia 33, AD (ZFYVE27)
  • Spastic paraplegia 3A, AD (ATL1)
  • Spastic paraplegia 4, AD (SPAST)
  • Spastic paraplegia 42, AD (SLC33A1)
  • Spastic paraplegia 48, AR (AP5Z1)
  • Spastic paraplegia 6, AD (NIPA1)
  • Spastic paraplegia 6, AD (REEP1)
  • Spastic paraplegia 7, AR (SPG7)
  • Spastic paraplegia 72, AD + AR (REEP2)
  • Spastic paraplegia 73, AD (CPT1C)
  • Spastic paraplegia 8, AD (WASHC5)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined