Table 2

Clinical features that can be associated with specific leukodystrophies

Clinical characteristics of specific leukodystrophies
Premature ovarian failure	VWM. Galactosaemia. AARS2-L.
Hypogonadotrophic hypogonadism	Gordon Holmes syndrome. 4H syndrome.
Parkinsonism	HDLS.
Chorea	Gordon Holmes syndrome.
Palatal myoclonus	Alexander disease.
Axonal peripheral neuropathy	ALD. LBSL. APBD. CTX.
Demyelinating peripheral neuropathy	MLD.
Optic atrophy	MLD. Krabbe disease. ALD. PMD mtDNA mutations.
Adrenal insufficiency	ALD.
Dental abnormalities	4H syndrome.
Tendon xanthomata	CTX.
Early urinary frequency	APBD.
Early autonomic features	ADLD.
Early prominent ataxia	CTX. Gordon Holmes syndrome. LKPAT.
Migraine with aura	CADASIL.
Cataracts	CTX mtDNA mutations.
Occasional rapid progression (<1 year)	ALD. Krabbe disease.

ADLD, adult-onset, autosomal dominant leukodystrophy; ALD, adrenoleukodystrophy; APBD, adult polyglucosan body disease; CADASIL, cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; CTX, cerebrotendinous xanthomatosis; HDLS, hereditary diffuse leukoencephalopathy with spheroids; LBSL, leukoencephalopathy with brainstem and spinal cord involvement with elevated lactate; LKPAT, leukoencephalopathy with ataxia; MLD, metachromatic leukodystrophy; PMD, Pelizaeus-Merzbacher disease; VWM, vanishing white matter.