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.