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CHILDHOOD ONSET POLYNEUROPATHIES

Hereditary Acquired
Axonal or Neuronal Myelin disorders
A-β-lipoproteinemia: MTP
Adrenomyeloneuropathy: ABCD1
An-α-lipoproteinemia (Tangier): ABC1
Andermann Syndrome: KCC3
  Motor neuropathy
ANOAC: STXBP5L
Ataxia telangectasia
Autonomic: Acute
Brachial Plexopathy
CEDNIK: SNAP29
Cerebrotendinous xanthoma: CYP27A1
Chediak-Higashi: LYST
CMT
D-bifunctional protein: HSD17B4
Fabry: GLA
Friedreich Ataxia: FRDA
Giant Axonal Neuropathy: GAN
Glycogenosis, Type 3: AGL
HMSN: II; 6; ARCMT2
Infant PN + Respiratory failure
Infant Onset Ataxia: c10orf2
LCHADD: HADHA & HADHB
Lethal neonatal
MTHFR deficiency
Minifascicles & Gonad dysgenesis: DHH
Mitochondrial
  MNGIE; NARP; Leigh; Other
Navajo Neuropathy + Arthropathy: MPV17
Navajo neurohepatopathy: MPV17
Neuroaxonal Dystrophies
  NAD: PLA2G6
  NAD2
  INNFD: NALCN
Riley-Day: IKBKAP
Leukoencephalopathy: RPIA
Sensory Neuropathies
Spinal muscular atrophy
  Proximal; Distal
Tyrosinemia: FAH
Xeroderma pigmentosum
Arthrogryposis
  CASPR
  ADCY6
Cataract & Face Dysmorphic: CTDP1
Cockayne: A (ERCC8); B (ERCC6)
Congenital muscular dystrophy
  Merosin deficient: LAMA2
Congenital hypomyelinating
D-bifunctional protein: DBP
Farber's lipogranulomatosis: ASAH
Glycosylation disorders
  CDG 1A: PMM2
  CDDG: NGLY1
Hemolytic anemia: CD59
HMSN
  Dominant
    CMT: IA, IB, III, EGR2
    HNPP
  Recessive
    CMT: III; 4A; 4B; ?4C
      4D (LOM); 4E; 4F; CNS
      HMSN-R; Dejerine-Sottas
  X-linked
Hypomyelin & Cataract: FAM126A
IMNEPD: PTRH2
Krabbe: GALC
Marinesco-Sjögren: SIL1
Metachromatic Leukodystrophy: ARSA
Myoclonus Epilepsy: SCARB2
Niemann-Pick: NPC1; NPC2
Pelizaeus-Merzbacher: PLP1
Refsum
Hypomyelination: SOX10
Thermosensitive PN
Immune
Guillain Barré
CIDP
AMAN

Toxic
Diphtheria
Botulism
Heavy Metals
Drugs & Toxins

Metabolic
Diabetes Mellitus
B12 deficiency
Uremia
HIV

Other
Carpal tunnel
See: Storage inclusions


STORAGE INCLUSIONS
TypeDiseaseCellular localization
Osmophilic
  with periodicity



Bilbao
Metachromatic Leukodystrophy Schwann cell
Macrophage
Axon
Fabry'sVascular
Perineurial
Schwann cell, non-myelinating
Niemann-Pick, Type 1All except axon
Batten-KufsSchwann cell
Vascular
Fibroblast
Toxic (Lysosomal)
  Amiodarone
  Chloroquine
  Perhexiline
  Similar inclusions: Cockayne
Vascular: Endothelial & smooth muscle
Nerve: Perineurial;
  Schwann cells (Non-myelinating)
Zebra bodies Metachromatic Leukodystrophy Schwann cell
Macrophage
MucopolysaccharidosisSchwann cell-myelinating
Fibroblast
Fabry's Vascular
Perineurial
Niemann-Pick Schwann cell
Endothelial
Macrophage
Pi granulesSchwann cell
Membrane-bound
  cleft or polygonal space
Krabbe Schwann cell
Macrophage
Adrenoleukodystrophy Schwann cell
Macrophage
Farber's disease Endothelial cell
Empty vacuoles Tangier disease Schwann cell, non-myelinating
GM1 gangliosidosisVascular
Fibroblast
I-cell diseaseSchwann cell, non-myelinating
Fibroblast
Perineurial
MucopolysaccharidosisFibroblast
Vascular
Schwann cell
Cerebrotendinous xanthomatosisSchwann cell
Wolman's diseaseAll
Sialidosis, type 1Schwann cell



Farber's disease (Lipogranulomatosis)
  Acid ceramidase (ASAH) ; Chromosome 8p22; Recessive
Giant Axonal Neuropathy

  Gigaxonin (GAN) ; Chromosome 16q23.2; Recessive





From: T Mozaffar

Giant Axonal Neuropathy

HMSN2 with Giant Axons (GAN2)
23
  DDB1- and CUL4-associated factor 8 (DCAF8) ; Chromosome 1q23.2; Dominant

Neuroaxonal Dystrophy (Late infantile; NBIA2A)

  Phospholipase A2, Group VI (PLA2G6) ; Chromosome 22q13.1; Recessive


Neuroaxonal Dystrophy 2
19
  Recessive


Infantile Neuroaxonal Degeneration with Facial Dysmorphism (INNFD; IHPRF)
  Sodium leak channel, nonselective (NALCN) ; Chromosome 13q33.1; Recessive

Congenital Hypomyelinating Neuropathies

Congenital hypomyelinating neuropathy 21
  P0 protein (MPZ) ; Chromosome 1q23.3; Recessive or Dominant
Congenital hypomyelinating neuropathy (CMT4E)
  Early growth response-2 (EGR2; KROX20) ; Chromosome 10q21.3; Dominant or Recessive Congenital hypomyelinating neuropathy, Asymptomatic
  Rho Guanine-Nucleotide Exchange Factor 10 (ARHGEF10) ; Chromosome 8p23.3; Dominant 14 Congenital hypomyelinating neuropathies: Other
Hereditary relapsing thermosensitive neuropathy
  Autosomal Dominant

Lethal Neonatal Sensory-Motor Polyneuropathy 1
  Autosomal Recessive

Infantile Axonal Polyneuropathy with Respiratory Failure 5
  Recessive; Sporadic

Congenital Cataracts, Facial Dysmorphism & Neuropathy Syndrome (CCFDN) 2
  C-terminal domain of RNA polymerase II subunit A, phosphatase of, subunit 1 (CTDP1) ; Chromosome 18q23; Recessive

Navajo Neurohepatopathy
  Glomerulosclerosis gene MPV17 (MPV17) ; Chromosome 2p23.3; Recessive
Navajo Neuropathy + Arthropathy

From: Otto Appenzeller

Navajo sensory-autonomic neuropathy with arthropathy
  Glomerulosclerosis gene MPV17 (MPV17) ; Chromosome 2p23.3; Recessive

Hypomyelination in CNS & PNS; Hypopigmentation & Enteric aganglionosis (PCWH) 3
  SOX10 ; Chromosome 22q13.1; Dominant or Sporadic


Tyrosinemia
  Fumarylacetoacetase (FAH) ; Chromosome 15q25.1; Recessive

Chediak-Higashi
  Lysosomal trafficking regulator (LYST; CHS1) ; Chromosome 1q42.3; Recessive

Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma (CEDNIK) 16
  SNAP29 ; Chromosome 22q11.21; Recessive


Hypomyelination and Congenital cataract (HCC; HLD5) 17
  Hyccin (DRCTNNB1A; FAM126A) ; Chromosome 7p15.3; Recessive


Myoclonus Epilepsy & Demyelinating Polyneuropathy 18
  Scavenger receptor class B, Member 2 (SCARB2) ; Chromosome 4q21.1; Recessive


Hemolytic Anemia & Demyelinating Polyneuropathy
  CD59 antigen (Protectin) ; Chromosome 11p13; Recessive

Congenital Disorder of Deglycosylation (CDDG)
  N-Glycanase 1 (NGLY1) ; Chromosome 3p24.2; Recessive

Axonal neuropathy, Optic atrophy & Cognitive deficit (ANOAC) 25
  Syntaxin binding protein 5-like (STXBP5L; LLGL4) ; Chromosome 3q13.33; Recessive


Childhood carpal tunnel syndrome: Differential daignosis
Hereditary Sensory Neuropathies

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5/31/2016