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IllnessSpastische Paraplegie, unkompliziert ("pure"); Differentialdiagnose
Summary
Short information
Comprehensive differential diagnostic panel for Spastic Paraplegia, uncomplicated ("pure"), comprising 13 or altogether 18 curated genes according to the clinical signs
ID
SP6712
Number of loci
| Loci type | Count |
|---|---|
| Gen | 20 |
Examined sequence length
22,3 kb (Core-/Core-canditate-Genes)
43,2 kb (Extended panel: incl. additional genes)
43,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| ADAR | 2796 | NM_001111.5 | AR | |
| ATL1 | 1677 | NM_015915.5 | AD | |
| DDHD1 | 2640 | NM_001160147.2 | AR | |
| HSPD1 | 1722 | NM_002156.5 | AD, AR | |
| NIPA1 | 990 | NM_144599.5 | AD | |
| REEP1 | 606 | NM_022912.3 | AD | |
| REEP2 | 765 | NM_001271803.2 | AD, AR | |
| RTN2 | 1638 | NM_005619.5 | AD | |
| SLC33A1 | 1650 | NM_004733.4 | AD, AR | |
| SPAST | 1851 | NM_014946.4 | AD | |
| SPG7 | 2388 | NM_003119.4 | AR, AD | |
| WASHC5 | 3480 | NM_014846.4 | AD | |
| AP5Z1 | 2424 | NM_014855.3 | AR | |
| ATP2B4 | 3513 | NM_001001396.3 | AD | |
| CPT1C | 2379 | NM_001136052.3 | AD | |
| ERLIN2 | 1020 | NM_007175.8 | AR | |
| KIF1A | 5073 | NM_004321.8 | AD, AR | |
| UBAP1 | 1966 | NM_001171201.1 | AD | |
| USP8 | 3357 | NM_005154.5 | AR | |
| ZFYVE27 | 1251 | NM_001002261.4 | AD |
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