Table 1.

Other Hereditary Neuropathies

Gene 1MOIDisorderOtherGeneReview / OMIM
ABCD1 XLAdrenomyeloneuropathyProgressive stiffness & weakness of legs, sphincter disturbances, sexual dysfunction, & often, impaired adrenocortical function X-Linked Adrenoleukodystrophy
ABHD12 ARPolyneuropathy, hearing loss, ataxia, retinitis pigmentosa, & cataract (PHARC)OMIM 612674
FXN ARFriedreich ataxiaMay present w/sensory loss, depressed tendon reflexes, & high-arched feet Friedreich Ataxia
MT-ATP6 mtNARPNeurogenic muscle weakness, ataxia, & retinitis pigmentosa Mitochondrial DNA-Associated Leigh Syndrome and NARP
PEX7
(PHYH)		ARRefsum diseaseAnosmia & early-onset retinitis pigmentosa ± neuropathy, deafness, ataxia, &/or ichthyosis Refsum Disease
PMP22 ADHereditary neuropathy with liability to pressure palsiesAcute onset of recurrent, painless, focal sensorimotor neuropathy in a single nerve Hereditary Neuropathy with Liability to Pressure Palsies
SCN9A ADSCN9A-related inherited erythromelalgiaRecurrent attacks of bilateral & symmetric intense pain, redness, warmth, & swelling involving feet & (less frequently) hands SCN9A-Related Inherited Erythromelalgia
SEPTIN9 ADHereditary neuralgic amyotrophyRecurrent sudden onset of shoulder or upper arm pain & weakness ± sensory loss; later atrophy of the upper extremityOMIM 162100
SPART ARTroyer syndromeProgressive spastic paraparesis, dysarthria, & pseudobulbar palsy; distal amyotrophy; motor & cognitive delays Troyer Syndrome
TTR ADTransthyretin-associated amyloidosisSensorimotor & autonomic neuropathy; cardiomyopathy; nephropathy; CNS amyloidosis Familial Transthyretin Amyloidosis
TYMP ARMNGIEProgressive gastrointestinal dysmotility; cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; demyelinating peripheral neuropathy Mitochondrial Neurogastrointestinal Encephalopathy Disease

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; mt = mitochondrial; XL = X-linked

1.

Genes are listed in alphabetic order.

From: Charcot-Marie-Tooth Hereditary Neuropathy Overview

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