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.