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General principles Spastic Paraplegia (SPG) Dominant 3A: Atlastin; 14q22 4: Spastin; 2p22 6: NIPA1; 15q11 8: KIAA0196; 8q24 9: 10q23 10: KIF5A; 12q13 12: RTN2; 19q13 13: HSPD1; 2q33 17 (Silver): BSCL2; 11q12 19: 9q33 29: 1p31 31: REEP1; 2p11 33: ZFYVE27; 10q24 36: 12q23 37: 8p21 38: 4p16 41: 11p14 42: SLC33A1; 3q25 SPG + Dystonia: 2q24 Recessive 5: CYP7B1; 8q12 5B 7 (5C): Paraplegin; 16q24 11: Spatacsin; 15q13 14: 3q27-q28 15: Spastizin; 14q24 18: ERLIN2; 8p12 20 (Troyer): Spartin; 13q13 21 (Mast): Maspardin; 15q22 23: 1q24 24: 13q14 25: 6q23 26: 12p11 27: 10q22 28: 14q21 30: ATSV (KIF1A); 2q37 32: 14q12 35: FA2H; 16q23 39: PNPLA6; 19q13 43: 19p13 44: GJA12; 1q41 45: 10q24.3 46: 9p21 47: 1p13 48: KIAA0415; 7p22 Infantile onset: Alsin; 2q33 SPOAN: 11q13 Cerebral palsy: 2q31 Leukodystrophy: FA2H; 16q23 X-linked 1: L1CAM; Xq28 2: Proteolipid protein; Xq22 16: Xq11 34: Xq25 Other: Deafness Mitochondrial MTCO3 mtRNA Ile (MTTI) MTND4 MTATP6 |
Familial Spinal Cord Syndromes AAA syndrome: Aladin; 12q13 Adrenomyeloneuropathy: ALDP; Xq28 Alexander: GFAP; 17q21; Dominant Alzheimer's: Presenilin 1; 14q24; Dominant Arnold-Chiari Malformation Cataracts & GI reflux: 10q23; Dominant Cavanagh's CT Xanthomatosis: CYP27A1; 2q33 Charlevoix-Saguenay: Sacsin; 13q11 Deafness: X-linked DRPLA: ATN1; 12p13; Dominant Dystonias: DOPA-responsive Epileptic Encphalopathy: ARX; Xp22 Episodic ataxia: 1p; Dominant Evans Fitzsimmons syndrome Friedreich ataxia: FRDA; 9q13 Hereditary Motor Syndromes HHH syndrome: SLC25A15; 13q14 HMN + UMN signs: Senataxin; 9q34 HMSN 5: Dominant HSN + SPG: CCT5; 5p15; Recessive Infections: HTLV-1 Krabbe: GalC; 14q31 L1 cell adhesion molecule (MASA): Xq28 Lawrence-Moon Leukodystrophy Child-onset: HSP60; 2q24; Recessive Adult-onset: Lamin B1; 5q31; Dominant Lipodystrophy & Cataracts: Dominant Mass lesions Mast syndrome (SPG 21) Mental retardation Macroorchidism (MRXS13): MECP2; Xq28 Rett syndrome: MECP2; Xq28; Dominant Spasticity: MECP2; Xq28 Small testes: ATRX; Xq13 Strabismus Mitochondrial MLD: Arylsulfatase A; 22q13 MTHFR: 1p36 Myoclonic epilepsy Oculodentodigital dysplasia: GJA1; 6q22 Choreoathetosis/Spasticity: 1p; Dominant Phenylketonuria: 12q24 Proteolipid protein: Xq21 Retinal degeneration SCA3: ATX3; 14q32; Dominant Scheie: IDUA; 4p16 Sensory ataxia: 8p12 Silver: 11q12 & Other; Dominant Sjögren-Larsson: FALDH; 17p11 SLS-like: ELOVL4; 6q14 SNAX1: RNF170; 8p11 SPAR: Dominant SPERM: Dominant Syringomyelia Woods-Black-Norbury: Xq26; Dominant |
Spastic Ataxias Dominant Branchial myoclonus: GFAP; 17q21 DRPLA: DRPLA protein; 12p13.31 Episodic ataxia + Choreoathetosis: 1p Lipodystrophy & Congenital cataracts Rett: MECP2 protein; Xq28 SCA SCA 3: Ataxin-3; 14q32 SCA 7: Ataxin-7; 3p14 SCA 28: AFG3L2; 18p11 SPAX (Spastic ataxia) SPAX1: 12p13 Spastic ataxia + Congenital miosis Spastic ataxia ± Retardation (SPAR) Recessive AMACR: 5p13 Charlevoix-Saguenay: Sacsin; 13q11 CLA2 Ataxia syndrome: X-linked Corneal dystrophy, Cataracts & Myopia DRPLA: Intermediate # CAG repeats Epilepsy & Neuropathy: AFG3L2; 18p11 Friedreich ataxia: Frataxin; 9q13-q21.1 Karak syndrome Leukodystrophies Adrenomyeloneuropathy: ALDP; Xq28 Adult-onset: Lamin B1; 5q31 HLD6 Krabbe: GALC; 14q31 MLD: Arylsulfatase A; 22q13 Leukoencephalopathy Ataxia, UMN & Neuropathy: RPIA; 2p11 Vanishing white matter syndromes LBSL: DARS2; 1 Marinesco-Sjögren: SIL1; 5q31 Pelizaeus Merzbacher-like (PML) PML1: GJA12; 1q41 PML2: AIMP1 (SCYE1); 4q24 SCAR5: SNF592; 15q25 SPAX (Spastic ataxia) SPAX2: 17p13 SPAX3 (Portneuf): 2q33 SPAX4 (Optic atrophy): MTPAP; 10p11 TTC19: 17p12 SPG SPG1: L1CAM; Xq28 SPG2 (Pelizaeus Merzbacher): PLP; Xq21 SPG30: 2q37 SPG44: GJA12; 1q41 SPG46: 9p21 Leukodystrophies Adrenomyeloneuropathy: ALDP; Xq28 Adult-onset: Lamin B1; 5q31 HLD6 Krabbe: GalC; 14q31 MLD: Arylsulfatase A; 22q13 |
Familial Spastic Paraplegia +... ALS Ataxia CNS Dystonia Ocular PNS Systemic Disorders Other spinal cord syndromes Cerebral palsy, spastic quadriplegic (CPSQ) CPSQ1: GAD1; 2q31 CPSQ2: KANK1; 9p24 CPSQ3: AP4M1; 7q22 CPSQ4: AP4E1; 15q21 CPSQ5: AP4B1; 1p13 CPSQ6: AP4S1; 14q12 SLS-like: ELOVL4; 6q14 Spine disorders, Familial Achondroplasia: FGFR-3; 4p16 Ankylosing spondylitis: 6p21 Atlanto-Axial instability Cleidocranial dysplasia: RUNX2; 6p21 Coffin-Lowry: RPS6KA3; Xp22 Collagen, type II disorders Disc disease, Familial: Multiple loci Dyggve-Melchior-Clausen: FLJ90130; 18q21 Larsen: Filamin B; 3p14 Morquio syndromes Oculodentodigital dysplasia: GJA1; 6q22 Opsismodysplasia Ossification PLL: 6p Pseudoachondroplasia: COMP; 19p13 Spondyloepiphyseal dysplasia variant Spondylometaepiphyseal dysplasia Spina bifida Tethered cord Trisomy 21 |
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Features suggesting diagnosis other than SPG Motor Weakness > Spasticity Prominent upper limb spasticity Asymmetry Peripheral neuropathy Ataxia: Symptomatic Retinal pigmentation Extrapyramidal signs |
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FSP + Thin corpus callosum
![]() From: R Baloh ![]() From: M Al-Lozi |
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SPG3A: Atlastin; 14q11-q24 SPG4: Spastin; 2p24-p21 SPG6: NIPA1; 15q11.1 SPG8: KIAA0196; 8q23-q24 SPG9 (Cataracts & GI reflux): 10q23.3-q24.2 SPG10: KIF5A; 12q13 SPG12: RTN2; 19q13 SPG13: HSPD1; 2q24 SPG17: 11q12 SPG19: 9q33 SPG29: 1p31 SPG31: REEP1; 2p12 SPG33: ZFYVE27; 10q24 SPG36: 12q23 SPG37: 8p21 SPG38: 4p16 SPG41: 11p14 Alzheimer (Presenilin 1): 14q24.3 HMSN 5 Multiple exostoses SOX10: 22q13 Spastic ataxia |
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Spastic ataxia Spasticity Spasticity + CNS Spasticity + Ocular Spasticity + PNS Spasticity + Systemic Disorders |
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CPSQ1: GAD1; 2q31 CPSQ2: KANK1; 9p24 CPSQ3: AP4M1; 7q22 CPSQ4: AP4E1; 15q21 CPSQ5: AP4B1; 1p13 CPSQ6: AP4S1; 14q12 |
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Adrenomyeloneuropathy: ALDP; Xq28 Mental retardation Infantile spasms: ARX; Xp22 Psychosis, & Macroorchidism: Xq28 Rett syndrome: MECP2; Xq28 Small testes: ATRX; Xq13 SPG1: L1CAM; Xq28 SPG2: PLP; Xq21 Strabismus: X Woods-Black-Norbury Syndrome: Xq26 SPG 16: Xq11 SPG 34: Xq25 |
| Cleidocranial dysplasia |
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![]() from A Kornberg MD |
![]() Ankylosing Spondylitis Limited back flexion |
![]() OPLL: Compression of cervical spinal cord
(MRI T2 signal) |
![]() Arnold-Chiari malformation
with Hydromyelia Cerebellar vermis projects below foramen magnum (Arrow) |
| Differential diagnosis of hereditary spastic paraplegia | |
| Category | Disorders |
| Structural abnormality | Spinal:
Spondylosis; Atlanto-axial; Canal stenosis Vascular: Arteriovenous malformation Congenital: Arnold-Chiari; Tethered cord Mass: Neoplasm; Granuloma; Syringomyelia |
| Degenerative disorders | Multiple sclerosis; Amyotrophic lateral sclerosis; Spinocerebellar ataxias |
| Leukodystrophies | Adrenomyeloneuropathy; Krabbe; Metachromatic leukodystrophy |
| Metabolic disorders | Vitamin deficiency: B12; E; Abetalipoproteinemia; Mitochondrial disorders |
| Infections | Syphilis; HTLV; HIV (AIDS); Lyme |
| Other | DOPA-responsive dystonia; Hydrocephalus; Toxins |