Clinical features of hereditary peripheral neuropathies associated with other disorders-I

Disorder	Inheritance	Gene	Clinical features
Friedreich ataxia	AR	FXN	Usual onset before age 25 years, progressive ataxia of all limbs, optic atrophy, pyramidal signs, early loss of position and vibration sense, bladder dysfunction, distal muscle atrophy, kyphoscoliosis, cardiomyopathy, diabetes mellitus
Infantile neuroaxonal dystrophy (PLA2G6-associated neurodegeneration)	AR	PLA2G6	Usual onset at age 1 to 3 years, motor and cognitive regression, spasticity, muscle atrophy, hypotonia, cerebellar ataxia, dystonia, optic atrophy, distal sensory loss
Tangier disease	AC	ABCA1	Orange tonsils, hepatosplenomegaly, premature coronary disease, neuropathy, absent (homozygotes) or 50 percent normal (heterozygotes) HDL cholesterol
Abetalipoproteinemia	AR	MTP	Acanthocytes, fat malabsorption, retinitis pigmentosa, peripheral neuropathy, ataxia, sensory motor neuropathy, absent tendon reflexes, low serum cholesterol and VLDL, absent serum beta lipoprotein
Classic Refsum disease	AR	PHYH	Retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, elevated CSF protein, sensorineural deafness, ichthyosis, anosmia, abnormal accumulation of phytanic acid
Infantile Refsum disease	AR	PEX1 PEX6	Abnormal accumulation of phytanic acid
Chediak-Higashi syndrome	AR	LYST	Recurrent infections, partial albinism, hepatosplenomegaly, increased risk of lymphoreticular malignancy, nystagmus, seizures, intellectual disability, generalized weakness, spinocerebellar degeneration, and parkinsonism

AR: autosomal recessive; AC: autosomal codominant.

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