Table 1

Classification of the inherited neuropathies

1. The neuropathy is the sole or primary component of the disease
▸ CMT, HNPP, HSN, HMN, hereditary neuralgic amyotrophy
2. The neuropathy is part of a complex, multisystem disorder
Inherited ataxias▸ Autosomal dominant: spinocerebellar ataxia
▸ Autosomal recessive: Friedreich's ataxia, vitamin E deficiency, ARSACS, AOA1
Inherited spastic paraplegia▸ BSCL2, REEP1, Atlastin, KIF1A
Porphyrias▸ AIP, variegate porphyria, hereditary coproporphyria
Disorders of lipid metabolism▸ Lipoprotein deficiencies: Tangier's disease, abetalipoproteinaemia, cerebrotendinous xanthomatosis
▸ Leukodystrophies (metachromatic, Krabbe's disease, adrenoleukodystrophy)
▸ Peroxisomal disorders (Refsum's disease, Fabry's disease)
▸ Sphingomyelin lipidoses and gangliosidoses
Mitochondrial disorders▸ MNGIE, NARP, SANDO
Defective DNA repair/maintenance▸ Xeroderma pigmentosum, Cockayne's syndrome, ataxia telangiectasia
Other▸ Neuroacanthocytosis, neurofibromatosis type 1 and 2, myotonic dystrophy, familial amyloid polyneuropathy
3. Multisystem disorders presenting as neuropathy and occasionally with neuropathy being the only sole manifestation
▸ Distal HMN due to REEP1 mutations
▸ HSN1 secondary to atlastin 1 mutations.
▸ Neuropathy secondary to MT-ATP 6 mutations.
  • AIP, acute intermittent porphyria; AOA1, ataxia with oculomotor apraxia type 1; ARSACS, autosomal recessive spinocerebellar ataxia of Charlevoix Saguenay; CMT, Charcot–Marie–Tooth disease; HMN, hereditary motor neuropathy; HNPP, hereditary neuropathy with liability to pressure palsies; HSN, hereditary sensory neuropathy; MNGIE, mitochondrial neurogastrointestinal encephalopathy syndrome; NARP, neuropathy, ataxia and retinitis pigmentosa; REEP1, receptor accessory protein 1; SANDO, sensory ataxia neuropathy dysarthria and ophthalmoplegia.