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FAMILIAL SPINAL CORD SYNDROMES (SPG) 1


General principles
  Protein types
  Metabolic testing

Familial Spastic Paraplegia +...
  Ataxia
  CNS
    Dystonia
  Mitochondrial
  Motor neuron
    ALS
    Primary Lateral Sclerosis
  Ocular
  PNS: Motor; PN
  Systemic Disorders

Spasticity: Other syndromes
  Cerebral palsy
    Spastic quadriplegic
(CPSQ)
  Leukodystrophies
  Spastic Ataxias (SPAX)
  Spine disorders, Familial
  Spinal cord


From: Wikipedia
Adolph Strümpell
Spastic Paraplegia (SPG)
3A: Atlastin; 14q22
4: Spastin; 2p22
6: NIPA1; 15q11
8: KIAA0196; 8q24
9A: ALDH18A1; 10q24
10: KIF5A; 12q13
12: RTN2; 19q13
13: HSPD1; 2q33
17: BSCL2; 11q12
19: 9q33
29: 1p31
30: ATSV; 2q37
31: REEP1; 2p11
33: ZFYVE27; 10q24
36: 12q23
37: 8p21
38: 4p16
41: 11p14
42: SLC33A1; 3q25
56A: 21q22
72: REEP2; 5q31
73: CPT1C; 19q13
80: UBAP1; 9p13
SINO: KIDINS220; 2p25
SPG: KCNA2; 1p13
SPG: ERLIN2; 8p12

1: L1CAM; Xq28
2: PLP; Xq22
16: Xq11
22: SLC16A2; Xq13
34: Xq25
Other: Deafness

MTCO3
mtRNA Ile (MTTI)
MTND4
MTATP6
Recessive
5: CYP7B1; 8q12
5B
7 (5C): Paraplegin; 16q24
9B: ALDH18A1; 10q24
11: Spatacsin; 15q13
14: 3q27-q28
15: Spastizin; 14q24
18: ERLIN2; 8p12
20 (Troyer): Spartin; 13q13
21 (Mast): ACP33; 15q22
23: DSTYK; 1q32
24: 13q14
25: 6q23
26: B4GALNT1; 12q13
27: 10q22
28: DDHD1; 14q22
30: ATSV (KIF1A); 2q37
32: 14q12
35: FA2H; 16q23
39: PNPLA6; 19p13
43: c19orf12; 19q12
44: GJA12; 1q41
45 & 65: NT5C2; 10q24
46: GBA2; 9p13
47: AP4B1; 1p13
48: AP5Z1; 7p22
49: TECPR2; 14q32
50: AP4M1; 7q22
51: AP4E1; 15q21
52: AP4S1; 14q12
53: VPS37A; 8p22
54: DDHD2; 8p11

Early onset
  CP: GAD1; 2q31
  Child: EXOSC3; 9p13
  Infant: Alsin; 2q33
  SPOAN: KLC2; 11q13
  STAHP: SOD1; 21q22
55: c12orf65; 12q24
56: CYP2U1; 4q25
57: TFG; 3q12
58: KIF1C; 17p13
59: USP8; 15q21
60: WDR48; 3p22
61: ARL6IP1; 16p12
62: ERLIN1; 10q24
63: AMPD2; 1p13
64: ENTPD1; 10q24
66: ARSI; 5q32
67: PGAP1; 2q33
68: See SPOAN
69: RAB3GAP2; 1q41
70: MARS; 12q13
71: ZFR; 5p13
72: REEP2; 5q31
74: IBA57; 1q42
75: MAG; 19q13
76: CAPN1; 11q12
77: FARS2; 6p25
78: ATP13A2: 1p36
79: UCHL1; 4p13
81: SELENOI; 2p23
82: PCYT2; 17q25
ACO2: 22q13
ALDH18A1: 10q24
BICD2: 9q22
IFIH1: 2q24
LYST: 1q42
RNF170: 8p11
SPPRS: HACE1; 16q16
TPP1: 11p15

SPG + HSN
  CCT5: 5p15
  FAM134B; 5p15
Familial Spinal Cord Syndromes
  Dominant
  Alexander: GFAP; 17q21
  Alzheimer's: Presenilin 1; 14q24
  Cataracts & GI reflux: 10q23
  DYT9: SLC2A1; 1p34
  DRPLA: ATN1; 12p13
  Dystonia: 2q24
  Episodic ataxia: 1p
  HMSN 5
  Leukodystrophy
    Adult-onset: Lamin B1; 5q31
  Lipodystrophy & Cataracts
  SCA3: ATX3; 14q32
  Silver: 11q12 & Other
  SOX10: 22q13
  SPAR
  SPERM

X-linked
  Adrenomyeloneuropathy: ALDP; Xq28
  Deafness: X-linked
  Epileptic Encphalopathy: ARX; Xp22
  Fitzsimmons
  MASA: L1CAM; Xq28
  Mental retardation
    MRXS13: MECP2; Xq28
    Rett: MECP2; Xq28; Dominant
    Spasticity: MECP2; Xq28
    Small testes: ATRX; Xq13
    Strabismus
  Woods-Black-Norbury: Xq26

Other
  Arnold-Chiari Malformation
  Dystonias: DOPA-responsive
  Infections: HTLV-1
  Motor Syndromes
  Retinal degeneration
  Syringomyelia
Recessive
  AAA syndrome: Aladin; 12q13
  Argininemia: ARG1; 6q23
  Cavanagh: CCT5; 5p15
  CT Xanthomatosis: CYP27A1; 2q33
  Charlevoix-Saguenay: Sacsin; 13q11
  Evans
  Friedreich ataxia: FRDA; 9q13
  HHH syndrome: SLC25A15; 13q14
  HMN + UMN signs: Senataxin; 9q34
  IKSHD: ELOVL1; 1p34
  Krabbe: GalC; 14q31
  Lawrence-Moon
  Leukodystrophy
    Child-onset: HSP60; 2q24
  Leukoencephalopathy: DARS; 12q21
  Mass lesions
  Mast (SPG 21): ACP33; 15q22
  MLD: Arylsulfatase A; 22q13
  MTHFR: 1p36
  Multiple exostoses
  Myoclonic epilepsy
  Oculodentodigital: GJA1; 6q22
  Paget: VCP; 9p13
  Parkinson: ATP6AP2; Xp11
  Phenylketonuria: PAH; 12q24
  Proteolipid protein: Xq21
  Scheie: IDUA; 4p16
  Sjögren-Larsson: FALDH; 17p11
  SLS-like: ELOVL4; 6q14
  SNAX1: RNF170; 8p11
  SPG + Hepatic: SLC30A10; 1q41



SPG: General Principles 11

Familial Spastic Paraplegia (Strumpell; FSP): Dominant


Familial Spastic Paraplegia (RFSP): Recessive



Spastic Paraplegia: Non-syndromic or Complex
Spasticity + Systemic Disorders


Spasticity + PNS


Spasticity + Ocular disorders


Spasticity + CNS

Cerebral palsy, Spastic Quadriplegic (CPSQ)

CPSQ1: GAD1; 2q31
CPSQ2: KANK1; 9p24
CPSQ3: AP4M1; 7q22
CPSQ4: AP4E1; 15q21
CPSQ5: AP4B1; 1p13
CPSQ6: AP4S1; 14q12
CPSQ: ADD3; 10q25
NEDSBAS: WDR45B; 17q25
NEDSGA: GRIA4; 11q22
NMIHBA: PRUNE1; 1q21
SLS-like: ELOVL4; 6q14
SPATCCM: SLC1A4; 2p14
Cerebral palsy, Ataxic
  KCNC3
  ITPR1
  SPTBN2



CPSQ1: Symmetrical spastic cerebral palsy
  Glutamate decarboxylase 1 (GAD1; GAD67) ; Chromosome 2q31.1; Recessive
CPSQ2
  KN motif and ankyrin repeat domains 1 (ANKRD15; KANK1) ; Chromosome 9p24.3; Recessive with parental effect
Cerebral Palsy Spastic Quadriplegia 3 (CPSQ3; SPG50)
  Adaptor-related protein complex 4, Mu-1 subunit (AP4M1; MU-ARP2) ; Chromosome 7q22.1; Recessive
Cerebral Palsy with Microcephaly & Intellectual Disability 4 (CPSQ4; SPG51)
  Adaptor-related protein complex 4, Epsilon-1 subunit (AP4E1) ; Chromosome 15q21.2; Recessive
Cerebral Palsy with Microcephaly & Intellectual Disability 5 (CPSQ5)
  Adaptor-related protein complex 4, Beta-1 subunit (AP4B1) ; Chromosome 1p13.2; Recessive

Spastic paraparesis with Intellectual Disability, Shy Character & Short Stature (CSPQ6; SPG52)
  Adaptor-related protein complex 4, Sigma-1 subunit (AP4S1) Chromosome 14q12; Recessive

Cerebral palsy, Spastic quadriplegic (CSPQ3)
  Adducin 3 (ADD3; ADDL; Gamma adducin) Chromosome 10q25.1-q25.2; Recessive


Spastic tetraplegia, Thin corpus callosum & Progressive microcephaly (SPATCCM)
Solute carrier family 1 (Glutamate/Neutral amino acid transporter), Member 4 (SLC1A4) Chromosome 2p14; Recessive

Neurodevelopmental disorder ± Seizures & Gait abnormalities (NEDSGA)
Glutamate receptor, ionotropic, AMPA 4 (GRIA4) Chromosome 11q22.3; Dominant or Sporadic
Neurodevelopmental Disorder with Spastic Quadriplegia & Brain abnormalities ± Seizures (NEDSBAS)
WD Repeat-containing protein 45B; (WDR45B) Chromosome 17q25.3; Recessive
Neurodevelopmental Disorder with Spastic Quadriplegia, Hypotonia & Seizures (NMIHBA)
Prune exopolyphosphatase 1 (PRUNE1) Chromosome 1q21.3; Recessive
Familial Spastic Paraplegia: X-linked

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 22: SLC16A2; Xq13
SPG 34: Xq25


Syringomyelia

Familial syringomyelia: with Arnold-Chiari & Scoliosis
  ? Autosomal Dominant


Cleidocranial dysplasia
  Runt-related transcription factor 2 (RUNX2) ; Chromosome 6p21.1; Dominant
  • Genetics: Allelic with
    • Metaphyseal Dysplasia with Maxillary Hypoplasia & Brachydactyly
      • RUNX2 exon 3 to 5 duplication
  • Protein
    • Osteoblast-specific transcription factor
    • Regulator of osteoblast differentiation
    • Interacts with: WWOX
  • Clinical features
    • Skull
      • Brachycephaly
      • Patent fontanelles
      • Wide sutures
    • Extra teeth
    • Short stature
    • Skeletal dysplasia
    • Joint laxity
    • Syringomyelia: Increased incidence
Acromesomelic dysplasia
  Growth/differentiation factor 5 (GDF5) ; Chromosome 20q11.2; Recessive
  • Dwarfism
  • Short forearms hands & feet
  • Hip dislocation
  • ± Syringomyelia

 
Cleidocranial dysplasia


from A Kornberg MD

Familial Spine Disorders & Myelopathy

Achondroplasia: FGFR-3; 4p16
Ankylosing spondylitis: 6p21
Atlanto-Axial instability
Cleidocranial dysplasia: RUNX2; 6p21
Coffin-Lowry: RPS6KA3; Xp22
Collagen, type II disorders
Disk disease: Multiple loci
Dyggve-Melchior-Clausen: FLJ90130; 18q21
Hypophosphatemia; Rickets
Larsen: Filamin B; 3p14
Lumbar stenosis
Morquio
Oculodentodigital Dysplasia: GJA1; 6q22
Opsismodysplasia: INPPL1; 11q13
Posterior longitudinal ligament
  Ossification
  Thickening
Pseudoachondroplastic dysplasia: COMP; 19p13
Scheuermann disease
Spondyloepiphyseal dysplasia variant
Spondylometaepiphyseal dysplasia: DDR2; 1q23
Spina bifida
Spinal Stenosis
Tethered cord
Trisomy 21
Also see:
  Acquired systemic causes of spine disorders
  Aggrecan mouse
  Radiology: Spine; Cervical spine




  • Hypophosphatemia, Vitamin D resistant rickets

  • Aggrecan heterozygosity: Mouse model
    Arnold-Chiari Malformation
      Autosomal Recessive or Sporadic
      With Syringomyelia
    • Nosology: Chiari malformation Type 2
    • Anatomy: Cerebellar tonsils herniate through foramen magnum
    • Clinical
    • May be associated with: Townes-Brocks Syndrome
    • External link

    Arnold-Chiari malformation + Hydromyelia
    Cerebellar vermis projects
    below foramen magnum (Arrow)

    From: Simon Kornberg
    Canine ACM + Hydromyelia

    Spastic Ataxia Syndromes 87

    Hereditary
      Dominant
        SCA
        SPAX
      Recessive
        SPAX
        SPG
      X-linked
    Acquired

    Spastic Ataxia, Dominant

    Spastic Ataxia, Recessive

    Spastic Ataxia: X-linked
    Spastic Ataxia: Acquired


    Spastic Ataxia 1, Hereditary (SPAX1) 21
      Vesicle-related membrane protein 1 (VAMP1; Synaptobrevin; SYB1) ; Chromosome 12p13.31; Dominant


    Hereditary Spastic Ataxia (SPAX7)
      Autosomal Dominant


    Spastic Ataxia 2 (SPAX2; SPG 58) 62
      Kinesin family member 1C (KIF1C) ; Chromosome 17p13.2; Recessive

    Branchial myoclonus with Spastic paraparesis & Cerebellar ataxia
      Glial fibrillary acidic protein (GFAP) ; Chromosome 17q21.31; Dominant
    Spastic ataxia, congenital, with Mental retardation & Osmiophilic skin vessels (GAMOS1; SCAR5) 18
      WDR73 ; Chromosome 15q25.2; Recessive
    Neurodegeneration with Optic atrophy, Childhood-onset (NDGOA)
      Ubiquitin carboxyl-terminal esterase L1 (UCHL1; PGP 9.5) ; 4p14
    Spastic Paraplegia, Ataxia ± Mental Retardation (SPAR) 23
      Autosomal Dominant
    Spastic Paraplegia, Epilepsy & Mental Retardation (SPERM)
      Autosomal Dominant
    Lipodystrophy with Spastic-Ataxia & Congenital cataracts (LCCNS) 25
      Caveolin 1 (CAV1) ; Chromosome 7q31.2; Dominant
    Paroxysmal Choreoathetosis/Spasticity (CSE; DYT9)
      SLC2A1 (GLUT1) ; Chromosome 1p34; Dominant

    Hypomyelinating Leukodystrophy 6 (HLD6; HABC)
      Sporadic, ? Recessive

    Hypomyelinating Leukodystrophy 9 (HLD9)
      Arginyl-tRNA Synthetase (RARS1) ; Chromosome 5q34; Recessive
    Hypomyelinating Leukodystrophy (Spastic-Ataxia) 120
      Glutamyl-Prolyl-tRNA Synthetase (EPRS) ; Chromosome 1q41 Recessive
    Leukoencephalopathy with Ataxia, UMN signs & Polyneuropathy 44
      Ribose-5-Phosphate Isomerase (RPIA) ; Chromosome 2p11.2; Recessive

    Leukoencephalopathy with Cortical involvement & Peripheral neuropathy 112
      Folate receptor 1, adult (FOLR1) ; Chromosome 11q13.4; Recessive
    Pelizaeus-Merzbacher–Like Disease (PMLD; HLD2) 46
      Gap Junction Protein α12 (Connexin 46.6; Connexin 47; GJA12; GJC2) ; Chromosome 1q42.13; Recessive

    Pelizaeus-Merzbacher–Like Disease 2 79
      Small inducible cytokine subfamily E, Member 1 (SCYE1; AIMP1) ; Chromosome 4q24; Recessive

    Spastic Ataxia with Optic Atrophy (SPAX4) 78
      Poly(A) RNA polymerase, mitochondrial (MTPAP; PAPD1) ; Chromosome 10p11.23; Recessive


    Spastic Paraparesis with Brain Stem & Spinal Cord Hypomyelination (Leukoencephalopathy) (HBSL) 94
      Aspartyl-tRNA Synthetase (DARS) ; Chromosome 12q21.3; Recessive
    Progressive Spastic Ataxia & Hypomyelinating Leukodystrophy (SPAX8) 117
      NK6, Drosophila, homolog of, 2 (NKX6-2) ; Chromosome 10q26.3; Recessive

    5,10-Methylenetetrahydrofolate Reductase Deficiency
      MTHFR ; Chromosome 1p36.22; Dominant

    Hereditary Sensory Ataxia (SNAX1; ADSA) 48
      Ring Finger Protein 170 (RNF170) ; Chromosome 8p11.21; Dominant
    Spasticity, Childhood-onset, with Hyperglycinemia (SPAHGC) : Spastic ataxia
      Glutaredoxin 5 (GLRX5) ; 14q32.13; Recessive
    Neurodegeneration with Brain Iron Accumulation 7 (NBIA7) : Spastic ataxia
      RALBP1-associated EPS domain-containing protein 1(REPS1) ; 6q24.1; Recessive
    Neurodegeneration with Brain Iron Accumulation 8 (NBIA8) : Spastic ataxia
      Carnitine acetyltransferase (CRAT; CAT1) ; 9q34.11; Recessive
    Hereditary Spastic Paraplegia, Complicated (SPG82) 125
      CTP:phosphoethanolamine cytidylyltransferase (ET; PCYT2) ; 17q25.3; Recessive
    Spastic dystonia syndromes
    Mass lesions
    Other familial spinal syndromes
    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

    Return to Spinal Cord Index
    Return to Neuromuscular home page

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