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HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT)

CMT & HMSN: Demyelinating
  Dominant
    CMT 1A: PMP-22; 17p12
    CMT 1B: P0 protein; 1q23
    CMT 1C: LITAF; 16p13
    CMT 1D: EGR2; 10q21
    CMT 1E (Deafness)
      PMP-22: 17p12
      P0 protein: 1q23
    CMT 1F: NEFL; 8p21
    CMT1: FBLN5; 14q32
    HNPP
      PMP-22 (Deletion or Point); 17p12
      KARS; 16q23
    HMSN 3 (Dejerine-Sottas)
        PMP-22; P0; 8q23; EGR2
    Thermosensitive
    PNS & CNS hypomyelin: SOX10; 22q13
    Sensory PN + Hearing loss: GJB3; 1p34
    Hypomyelination: ARHGEF10; 8p23
    CMT-DIF: GNB4; 3q26
    HMSN: HARS; 5q31
    HMSN: PMP2; 8q21

  Recessive: Also AR-CMT1
    CMT 4A: GDAP1; 8q21
    CMT 4B1: MTMR2; 11q22
    CMT 4B2: SBF2; 11p15
    CMT 4B3: SBF1; 22q13
    CMT 4C: SH3TC2 (KIAA1985); 5q32
    CMT 4D (Lom): NDRG1; 8q24
    CMT 4E: EGR2; 10q21
    CMT 4F: Periaxin; 19q13
    HMSN-Russe (4G): HK1; 10q22
    CMT 4H: FGD4; 12q12
    CMT 4J: FIG4; 6q21
    CMT 4K: SURF1; 9q34
    HMSN 3 (Dejerine-Sottas)
        P0; PMP-22; EGR2; Periaxin
    HMSN + Juvenile glaucoma
    Cataracts (CCFDN): CTDP1; 18qter
    Cockayne's: 5
    Congenital hypomyelinating
        P0, PMP-22 & EGR-2
    Farber lipogranulomatosis: ASAH; 8p22
    CDG1a: PMM2; 16p13
    Krabbe: GALC; 14q31
    MLD: ARSA; 22q13
    PMP-22 point mutations
    Refsum's disease
        Childhood: PHYH; 10pter-p11.2
        Adolescent-Adult: PEX7; 6q22
        Infant: PEX1; 7q21
        PHARC: ABHD12; 20p11
    HMSN +
      CNS: Heterogeneous
      Neurodegeneration: DNAJC3; 13q32

  X-linked
    1 (Males): GJB1 (CX32); Xq13
    Pyramidal signs
CMT & HMSN: Axonal
  Dominant
    CMT 2A2A: MFN2; 1p36
    ? CMT 2A1: KIF1B; 1p36
    CMT 2B: RAB7; 3q21
    CMT 2C: TRPV4; 12q24
    CMT 2D: GARS; 7p14
    CMT 2E: NEFL; 8p21
    CMT 2F/ Distal HMN: HSPB1; 7q11
    CMT 2G: 12q12
    CMT 2I: P0; 1q22
    CMT 2J: P0; 1q22
    CMT 2K: GDAP1; 8q21
    CMT 2L: HSPB8; 12q24
    CMT 2M: DNM2; 19p13
    CMT 2N: AARS; 16q22
    CMT 2O: DYNC1H1; 14q32
    CMT 2P: LRSAM1; 9q33
    CMT 2Q: DHTKD1; 10p14
    CMT 2T: DNAJB2; 2q35
    CMT 2U: MARS; 12q13
    CMT 2V: NAGLU; 17q21
    CMT 2W: HARS; 5q31
    CMT 2Y: VCP; 9p13
    CMT 2Z: MORC2; 22q12
    CMT 2CC: NEFH; 22q12
    CMT 2: TFG; 3q12
    CMT 2: DGAT2; 11q13
    CMT 2: MME; 3q25
    Giant axonal 2: DCAF8; 1q22
    HMSN-Proximal: TFG; 3q12
    CMT2 + Pyramidal
      HMSN5: 4q34
      MFN2; 1p36
      KIF5A: 12q13
    HMSN + Optic atrophy
    HMSN + Deafness
      P0
      Connexin-31 (GJB3)
      Eye ± Ear dysfunction
    HMSN6A (+ Optic): MFN2; 1p36
    HSMN + Ulcero-mutilation
    HSAN I
      SPTLC1: 9q22
      SPTLC2: 14q24
    HMSN: SPTLC3; 20p12
    HSMN + Ataxia: IFRD1; 7q31
    HMN 5B: BSCL2; 11q13
    CFEOM3: TUBB3; 16q24
  Recessive
    AR-CMT2
      A (B1): Lamin A/C; 1q22
      B (B2): MED25; 19q13.3
      F/Distal HMN: HSPB1; 7q11-q21
      H/Pyramidal signs: 8q21.3
      K/Hoarseness: GDAP1; 8q21
      P: LRSAM1; 9q33
      R: TRIM2; 4q31
      S: IGHMBP2; 11q13
      T: MME; 3q25
      X: SPG11; 15q21
      2A2B: MFN2; 1p36
      HSJ1; 2q35
      PNKP: 19q13
    Acrodystrophy: ATSV; 2q37
    Andermann: KCC3; 15q13
    Ataxia + Neuropathy
      Cough + Sensory
      Hepato-Cerebellar: SCYL1; 11q13
      SCAN1: TDP1; 14q31
    Early onset
      Lethal Neonatal
      Neuroaxonal dystrophy: PLA2G6; 22q13
      Ouvrier
      Optic: MFN2; 1p36
      Respiratory failure
        REEP1: 2p11
        MFN2: 1p36
      Severe: NEFL; 8p21
    Giant axonal: Gigaxonin; 16q23
    Neuromyotonia: HINT1; 5q31
    Optic neuropathy
      HMSN ± Deaf
      HMSN6B: SLC25A46; 5q22
    Syndromes: HMSN+
      Childhood onset
      CNS
      Deafness

  X-linked
    Semi-Dominant
      1: GJB1 (CX32); Xq13
      6: PDK3; Xp22
    Recessive
      2: Xp22.2
      3: Xq27
      4 (Cowchock): AIFM1; Xq26
      5: PRPS1; Xq22
      Sensory PN + Deaf: Xq23

  Mitochondrial: MT-ATP6
CMT + Intermediate NCV
  Dominant
    CMT DIA: 10q24
    CMT DIB: DNM2; 19p13
    CMT DIC: YARS; 1p35
    CMT DID: P0; 1q22
    CMT-DIE: INF2; 14q32
    CMT-DIF: GNB4; 3q26
    CMT-X (Semi-dominant)
    CMT 2E: NEFL; 8p21
    Hypomyelination: ARHGEF10; 8p23

  Recessive
    CMT RIA: GDAP1; 8q21.1
    CMT RIB: KARS; 16q23
    CMT RIC: PLEKHG5; 1p36
    CMT RID: COX6A1; 12q24
    CMT XI: DRP2; Xq22


Other related names or disorders

  α-Methylacyl-CoA racemase (AMACR)
  Brachial plexopathy, Hereditary
  Childhood onset neuropathies
  CNS & Cranial nerve disorders
  Complex clinical syndromes
  Congenital Hypomyelinating
    EGR2: 10q21
    P0: 1q22
    PMP-22: 17p11
    ARHGEF10; 8p23
  Connective tissue: EMILIN1; 2p23
  Cowchock: AIFM1; Xq26
  Dejerine-Sottas (HMSN 3)
  Focally folded myelin sheaths
    CMT 4B: MTMR2; 11q23
    CMT 4B2: SBF2; 11p15
    CMT 4E: EGR2; 10q21
    CMT 4F: Periaxin; 19q13
    P0: 1q22
    Juvenile glaucoma
  Hereditary
    Distal motor neuropathies (dHMN)
    Sensory neuropathies (HSN; HSAN)
  Metabolic abnormalities
  Minifascicles & Gonadal dysgenesis
    HMSN
    HSN: DHH; 12q12
  Myelin disorders; Recessive
  Recurrent
    Brachial plexopathy
    Pressure palsies (HNPP): PMP-22
    Neuropathy: 21q21
  SMARD
  Vertical talus: HOXD10; 2q31
Charcot-Marie-Tooth (CMT)
  Features
    Associated
    Childhood
    Childhood CMT
    Comparative
    General
    Molecules
    Pathology
  Myelin proteins
  External link: Mutation database


Charcot (left) & Babinski
at the Salpêtrière clinic.


OVERVIEW 119

Prevalence
  • Hereditary neuropathies: ~30 per 100,000
  • CMT Type 1: 15 per 100,000
  • CMT 1A: 10.5 per 100,000
  • CMT 2: ? 7 per 100,000
Tissue & Functional involvement

Duchenne
CMT

R Baloh
Hereditary Neuropathies: Related Molecules

Pathology in hereditary neuropathies: Differential diagnosis 120
Other hereditary motor-sensory neuropathies
Clinical CMT (HMSN): Differential Diagnosis & Associated Features 93

HMSN types: Comparison of clinical features 36
Disorder Gene Locus Usual onset Early or distinct
symptoms
Tendon
Reflexes
NCVs
CMT1: Dominant; Demyelinating
CMT 1A PMP-22
Duplication
17p11 1st decade Distal weakness
Commonest form
Absent 15 to 20 M/s
CMT 1B P0 1q22 1st decade Distal weakness
More severe
Absent <20 M/s
CMT 1C LITAF 16p13 2nd decade Distal weakness Reduced 16 to 25 M/s
CMT 1D EGR2 10q21 2nd decade Distal weakness
Ptosis
Absent 26 to 42 M/s
CMT 1F NF-68 8p21 1 to 40 yrs Distal weakness
Ataxia
Reduced Axon loss
CMT 1 Fibulin-5 14q32 3rd to 6th decade Distal weakness Reduced Axon loss
CMT 1 PMP2 8q21 1st & 2nd decade Distal weakness Absent 15 to 22 M/s
CMT X (S-D*) GJB1 Xq13 2nd decade Distal weakness
Hearing loss
Encephalopathy
Absent distal 25 to 40 M/s
HNPP PMP-22
Deletion
17p11 3rd decade Focal episodic
weakness
Normal Entrapments
Dejerine-Sottas
  (HMSN 3)
PMP-22
8q23
EGR2
17p11
8q23
10q21
2 yrs Severe weakness Absent <10 m/s
CMT DIB DNM2 19p13 1st or 2nd
decade
Distal weakness
Neutropenia
Reduced
Distal
25 to 50 m/s
CMT DIE INF2 14q32 1st to 3rd
decade
Distal weakness
Renal (Proteinuria)
Reduced
Distal
23 to 45 m/s
CMT
  Intermediate
  NCV
10q24
YARS
P0
CMT-X
GNB4
10q24
1p35
1q22 
Xq13
3q26
1st to 5th
decade
Distal weakness   15 to 50 m/s
CMT2: Dominant; Axonal
CMT 2A MFN2 1p36 10 yrs Distal weakness
CNS
Hearing Δ
Absent distal > 38 M/s
CMT 2B RAB7 3q13 2nd decade Distal weakness
Sensory loss
Acromutilation
Absent distal Axon loss
CMT 2C TRPV4 12q24 1st decade Vocal cord &
Distal weakness
Absent > 50 M/s
CMT 2D GARS 7p15 16 to 30 yrs Distal weakness
  Arms > Legs
Reduced Axon loss
CMT 2E NF-68 8p21 1 to 40 yrs Distal weakness Reduced Axon loss
CMT 2F/
  Distal HMN
HSPB1 7q11 6 to 54 yrs Difficulty walking Reduced ankle Axon loss
CMT 2G   12q12 15 to 25 yrs Distal weakness Reduced 42 to 58 M/s
CMT 2K GDAP1 8q13 Infant Distal weakness
Vocal cord
Early disability
Reduced Axon loss
CMT 2L HSPB8 12q24 15 to 33 yrs Distal weakness Reduced Axon loss
CMT 2M DNM2 19p13 0 to 50 yrs Distal weakness
  Legs > Arms
Ophthalmoparesis
Reduced Axon loss
CMT 2N AARS 16q22 6 to 54 yrs Distal leg weak
Asymmetric
Reduced Axon loss
HMSN-P   3q13 17 to 50 yrs Proximal weakness
Cramps
Absent Axon loss
HSMN + Ataxia IFRD1 7q31 13 to 27 yrs Gait ataxia Absent Axon loss
CMT 2 P0 P0 1q22 37 to 61 yrs Leg weakness
Pupil or Hearing Δ
Reduced < 38 M/s to
Normal
AR-CMT2: Recessive; Axonal
AR-CMT2A Lamin A/C 1q22 2nd decade Distal weakness Reduced Axon loss
AR-CMT2B MED25 19q13 3rd & 4th
decade
Distal weakness Absent distal Axon loss
AR-CMT2 LRSAM1 9q33 2rd to 5th
decade
Distal weakness &
Sensory loss
Absent Axon loss
AR-CMT2
(CMT 2B5)
NEFL 8p21 < 2 years Severe
Distal weakness &
Sensory loss
Absent Axon loss
AR-CMT2 HSPB1 7q11 1st to 6th decade Distal weakness Reduced Axon loss
Andermann KCC3 15q13 1st decade Hypotonia Absent Mildly
reduced
Cowchock AIFM1 Xq26 1st decade Distal weakness
Retardation
Absent Axon loss
CMT X5 PRPS1 Xq22 8 to 13 yrs Legs
Hearing loss
Optic neuropathy
Reduced Axon loss
CMT4: Recessive; Demyelinating
CMT 4A GDAP1 8q13 Childhood Distal weakness
Vocal cord
Reduced Slow
CMT 4B MTMR2 11q22 2 to 4 yrs Distal & Proximal
weakness
Absent Slow
CMT 4B2 SBF2/
  MTMR13
11p15 1st 2 decades Distal weakness
Sensory loss
Glaucoma
Absent 15-30 m/s
CMT 4C SH3TC2 5q23 5 to 15 yrs Delayed walking Reduced 14 to 32 M/s
CMT 4D (Lom) NDRG1 8q24 1 to 10 yrs Gait disorder
Hearing Δ
Absent 10 to 20 M/s
CMT 4E EGR2 10q21 Birth Infant hypotonia
Arthrogryposis
Respiratory failure
Absent 9 to 20 M/s
CMT 4F Periaxin 19q13 1 to 3 yrs Motor delay
Sensory loss
Absent Absent
HMSN-Russe (4G) HK1 10q22 8 to 16 yrs Distal leg
weakness
  Moderately
reduced
CMT 4H FGD4 12q12 10 to 24 mo Walking delay
Severe; Scoliosis
Absent < 15 M/s
CMT 4J FIG4 6q21 Congenital
  to Adult
Asymmetric
Proximal &
Distal weakness
Absent 2 to 40 M/s
CMT 4 SURF1 9q34 Childhood Distal weakness &
  sensory loss
Absent 15 to 22 M/s
Dejerine-Sottas
  (HMSN 3)
P0
CMT 4F
1q22
19q13
2 yrs Severe weakness Absent <10 M/s
Congenital
  Hypomyelinating
  Neuropathy
P0
EGR2
PMP-22
1q22
10q21
17p11
Birth Severe weakness Absent <10 M/s
CCFDN CTDP1 18q23 1st or 2nd
decade
Distal leg weak
Cataracts
Retardation
Reduced 20 to 34 M/s
* Semi-Dominant


External links

SPECIFIC HMSN SYNDROMES


CMT IA

  PMP 22 ; Chromosome 17p12; Dominant

PMP-22 mutation types
  Duplication
    Contiguous gene (YUHAL)
  Triplication
  Homozygous (Duplication)
  Point
  Recessive
CMT 1E (Deafness)
PMP-22
  Clinical-Gene relations
  Gene mutations
  Protein
Pathology

Also see: HNPP

CMT 1A
PMP-22 Duplication

Chaddock 1900


CMT IB + Other P0 mutation syndromes 61

  P0 protein (MPZ) ; Chromosome 1q23.3

P0: Genetic features
P0 protein
P0 Clinical syndromes
  CMT 1B: Dominant; Demyelinating
  CMT 1B (Roussy-Levy): Dominant; Demyelinating
  CMT 1B: Dominant; Demyelinating; Pupils; Early onset
  CMT 1E: Dominant; Demyelinating, Hearing loss
  CMT 2I: Dominant; Axonal
  CMT 2J: Dominant; Axonal; Pupil disorders; Hearing loss
  CMT-DID: Dominant; Intermediate nerve conductions
  Congenital: Recessive or Dominant; Hypomyelinating
  Dejerine-Sottas: Dominant or Recessive; Demyelinating
  Steroid responsive, Late-onset: Dominant; Demyelinating
  Adult onset (Axonal)
  Hypertrophic radiculopathy
  P0 variant syndromes
P0

P0


CMT 1C 20

  Lipopolysaccharide-induced tumor necrosis factor-α factor (LITAF; SIMPLE; EET1; PIG7) ; Chromosome 16p13.13; Dominant

EGR2 mutations: CMT 1D & Other phenotypes

  EGR2 (Krox20) ; Chromosome 10q21.3; Dominant or Recessive

Fibulin 5 mutations: CMT 1 or D-HMN with Macular Degeneration & Hyperelastic Skin (HNARMD) 91

  Fibulin-5 (FBLN5) ; Chromosome 14q32.12 Dominant

CMT 1 129

  Peripheral myelin protein 2 (PMP2) ; Chromosome 8q21.13; Dominant or Sporadic

CMT: X-linked

Type 1
  Variants
Type 2
Type 3
Type 4 (Cowchock)
Type 5
Pyramidal signs


CMT 2A2

CMT 2

General features


CMT 2A: General

CMT 2A1
  Kinesin family member 1Bβ (KIF1B) ; Chromosome 1p36.22; Dominant

From: B Baloh MD

CMT 2A2
  Mitofusin 2 (MFN2; KIAA0214) ; Chromosome 1p36.22; Dominant, Semi-Dominant or Recessive


CMT 2B
  RAB7 ; Chromosome 3q21.3; Dominant


  • CMT 2C (HMSN 2C) 27
      TRPV4 ; Chromosome 12q24.11: Dominant


    CMT 2D
      Glycyl tRNA Synthetase (GARS) ; Chromosome 7p14.3; Dominant


    CMT 1F 39
      Neurofilament light chain (NEFL) ; Chromosome 8p21.2; Dominant or Sporadic CMT 2E 4
      Neurofilament light chain (NEFL) ; Chromosome 8p21.2; Dominant
    AR-CMT (CMT 2B5): Severe, Early onset 78
      Neurofilament light chain (NEFL) ; Chromosome 8p21.2; Recessive

    CMT 2F/ Distal HMN 19
      Heat-shock 27-kD protein 1 (HSPB1; HSP 27) ; Chromosome 7q11.23; Dominant or Recessive


    CMT 2G 46
      Chromosome 12q12–q13.3; Dominant

    CMT 2L 47
      Heat-shock 22-kD protein 8 (HSPB8) ; Chromosome 12q24.3; Dominant

    CMT 2N 81
      Alanyl-tRNA Synthetase (AARS) ; Chromosome 16q22.1; Dominant

    CMT 2O 96
      Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) ; Chromosome 14q32.31; Dominant

    CMT 2Q 108
      2-Oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial, Probable (DHTKD1) ; Chromosome 10p14; Dominant

    Charcot-Marie-Tooth disease, Recessive Intermediate D (CMTRID) 123
      COX6A1 ; Chromosome 12q24.31; Recessive


    HMSN-P

    CMT 2-P0



    Hereditary Sensory-Motor Neuropathy with Ataxia (SMNA) 26
      Interferon-related developmental regulator gene 1 (IFRD1) ; Chromosome 7q31.1; Dominant


    CMT with Intermediate NCV (DI-CMT) 17



    DI-CMT, Type A (CMTDIA)
      Chromosome 10q24.1-q25.1; Dominant


    DI-CMT, Type B (CMTDIB)
      Dynamin 2 (DNM2) ; Chromosome 19p13.2; Dominant

    DI-CMT, Type C (CMTDIC) 43
      Tyrosyl-tRNA synthetase (YARS) ; Chromosome 1p35.1; Dominant


    DI-CMT, Type E (CMT-DIE): CMT, Intermediate with Glomerulopathy 101
      Inverted formin 2 (INF2; c14orf173) ; Chromosome 14q32.33; Dominant or Sporadic


    DI-CMT, Type F (CMT-DIF) 113
      Guanine nucleotide-binding protein, β4 (GNB4) ; Chromosome 3q26.33; Dominant

    Other CMT disorders with intermediate NCV

    Recessive, Axonal CMT

    AR-CMT2A: Lamin A/C; 1q22
    AR-CMT2B: MED25; 19q13.3
    AR-CMT2 + Hoarseness (CMT 2K): GDAP1; 8q21
    AR-CMT2, Severe & Early onset: NEFL; 8p21
    AR-CMT2/Distal HMN: HSPB1; 7q11-q21
    AR-CMT2: LRSAM1; 9q33
    AR-CMT2-Acrodystrophy
    AR-CMT2-Ouvrier: Early childhood onset
    AR-CMT2 + Neuromyotonia: HINT1; 5q31
    Andermann (Corpus callosum Δ): 15q13
    CMT X-linked
    HMSN + CNS: Heterogeneous
    Giant axonal neuropathy: Gigaxonin; 16q24
    HMSN + Deafness
    HMSN + Optic neuropathy ± Deafness
    Lethal Neonatal
    Neuroaxonal dystrophy




    Axonal CMT (AR-CMT2A; CMT2B1) 1
      Lamin A/C ; Chromosome 1q22; Recessive


    Axonal CMT (AR-CMT2B; CMT2B2) 12
      MED25 (ARC92; ACID1) ; Chromosome 19q13.33; Recessive


    CMT 2K 23
      Ganglioside-induced differentiation-associated protein 1 (GDAP1) ; Chromosome 8q21.11; Recessive or Dominant

    GDAP1 CMT Variants
      Recessive, Axonal
      Dominant, Axonal
      Recessive, Intermediate A (CMT RIA)
      Recessive, Mild
      Recessive, Demyelinating (CMT 4A)



    Axonal CMT (AR-CMT): Ouvrier type
      Autosomal Recessive or Semi-Dominant


    Axonal CMT with pyramidal involvement (AR-CMT2C; CMT4C2) 14
      Chromosome 8q21.3; Recessive

    HMSN with Intermediate NCV, X-linked (CMT XI) 128
      Dystrophin-related protein 2 (DRP2) ; Chromosome Xq22.1; Recessive

    Hereditary Ulcero-mutilating Sensory > Motor Neuropathy, Recessive (HSAN IIC; HSN2C) 94
      Axonal transporter of synaptic vesicles (KIF1A; ATSV) ; Chromosome 2q37.3; Recessive

    Axonal CMT (CMT2) with Acrodystrophy, Recessive
      Recessive 8


    Axonal CMT (CMT2P), Recessive
      Leucine-rich repeat- and sterile alpha motif-containing 1 (LRSAM1) ; Chromosome 9q33.3; Recessive 90 or Dominant 99



    Axonal CMT2, Recessive + Neuromyotonia (ARAN-NM; AR-CMT2 + Neuromyotonia; NMAN) 106
      Histidine triad nucleotide-binding protein 1 (HINT1) ; Chromosome 5q31.1; Recessive


    Axonal CMT2, Recessive, Early-onset 115
      Tripartite motif-containing protein 2 (TRIM2) ; Chromosome 4q31.3; Recessive


    AR-CMT2T: Axonal CMT2, Recessive, Adult onset 133
      Membrane metalloendopeptidase (MME; CD10; CALLA; Neprilysin; NEP) ; Chromosome 3q25.2; Recessive

    HMSN III (Dejerine-Sottas) 32



    Hereditary Liability to Pressure Palsies (HNPP)

    PMP-22 mutations
      Clinical
      Genetics
      Laboratory
      Pathology
        Images
    KARS mutations

    HNPP: PMP-22 Genetics
      PMP-22 deletion; Chromosome 17p12; Dominant

    HNPP-PMP22: Clinical features 44 HNPP: Laboratory features
    Lysyl-tRNA Synthetase Mutations 88
      KARS ; Chromosome 16q23.1; Recessive or Dominant

    CMT 4

    General features

    CMT 4A
      Ganglioside-induced differentiation-associated protein 1 (GDAP1) ; Chromosome 8q21.11; Recessive

    HMSN with focally folded myelin sheaths (CMT 4B)

      CMT 4B1 (CMT 4B)
        Myotubularin-related protein-2 (MTMR2) ; Chromosome 11q21; Recessive


      CMT 4B2 2
        SET binding factor 2 (SBF2) (MTMR13) ; Chromosome 11p15.4; Recessive   HMSN with focally folded myelin sheaths: With juvenile-onset Glaucoma 6
        SET binding factor 2 (SBF2) (MTMR13) ; Chromosome 11p15.4; Recessive

      CMT 4B3 with Focally folded myelin 117
        SET binding factor 1 (SBF1) (MTMR5) ; Chromosome 22q13.33; Recessive

      HMSN with focally folded myelin sheaths: Dominant
        P0 protein; Chromosome 1q23.3; Dominant
        Additional loci

      HMSN with focally folded myelin sheaths: Additional locus
        Recessive



    CMT 4C
      SH3 domain and tetratricopeptide repeat domain 2 (SH3TC2; KIAA1985) ; Chromosome 5q32; Recessive

    CMT 4D: HMSN (Demyelinating) & Hearing loss (Lom type)
      N-myc Downstream-Regulated Gene 1 (NDRG1) ; Chromosome 8q24.22; Recessive


    CMT 4F 3
      Periaxin (PRX) ; Chromosome 19q13.2; Recessive


    HMSN-Russe (HMSNR; CMT 4G) 5
      Hexokinase 1 (HK1) ; Chromosome 10q22.1; Recessive

    CMT 4H 52
      frabin/FGD4 ; Chromosome 12p11.21; Recessive

    CMT 4J 69
      FIG4 ; Chromosome 6q21; Recessive

    HMSN with CNS or Cranial nerve involvement

    Dominant, Axonal
    Dominant, Demyelinating
    Recessive, Axonal
    Recessive, Demyelinating
    X-linked, Demyelinating


    HMSN with CNS or Cranial nerve: Dominant, Demyelinating


    HMSN with Systemic, CNS or Cranial nerve Disorders: Dominant, Axonal


    HMSN with CNS or Cranial nerve: Recessive, Axonal neuropathy


    HMSN with CNS or Cranial nerve: Recessive, Demyelinating



    REFSUM SYNDROMES (Peroxisome Biogenesis Disorders; Zellweger syndromes)



    HMSN with CNS or Cranial nerve: X-linked, Demyelinating

    HMSN with pyramidal signs & cerebral white matter lesions 40
      Semi-Dominant

    Hereditary Neuropathies - Other

    α-Methylacyl-CoA racemase (AMACR) deficiency
      AMACR ; Chromosome 5p13.2; Recessive
    HMSN with Minifascicle Formation & 46XY Pure Gonadal Dysgenesis 25
      Sporadic vs Recessive
    HMSN with Congenital vertical talus 49
      HOXD10 ; Chromosome 2q31.1; Dominant
    Hereditary Recurrent Neuropathy 122
      Chromosome 21q21.1–q21.3; Dominant
    CMT 2W: Peripheral neuropathy, Hereditary 105
      Histidyl-tRNA synthetase (HARS) ; Chromosome 5q31.3; Dominant or Sporadic

    CMT 2U: Peripheral neuropathy, Sensory-Motor 116
      Methionyl-tRNA synthetase (MARS) ; Chromosome 12q13.3; Dominant
    CMT 2Z: Peripheral neuropathy, Sensory-Motor 131
      MORC family CW-type zinc finger protein 2 (MORC2) ; Chromosome 22q12.2; Dominant


    CMT 2: Peripheral neuropathy, Early onset + Sensory Ataxia 132
      Diacylglycerol O-Acyltransferase 2 (DGAT2) ; Chromosome 11q13.5; Dominant
    Also see: Childhood onset neuropathies
    Patient information
    Support groups


    Return to Polyneuropathy Index
    Return to Neuromuscular home page


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    Illustration by J. Kwon, MD

    9/5/2016