Rare Disease Library

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons · CMT2 with giant axons

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant optic atrophy and peripheral neuropathy

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

CADASIL · Hereditary multi-infarct dementia

Congenital axonal neuropathy with encephalopathy

Pontine autosomal dominant microangiopathy with leukoencephalopathy

PADMAL