Atypical MRI features in familial adult onset Alexander disease: case report

BMC Neurology

Table 1 The characteristics of common leukodystrophies in adult

Disease	Clinical presentation	Abnormal regions or abnormalities on brain MRI	Gene mutations
X-ALD	SP	CST, dorsal columns, CC, PWM	ABCD1
Metachromatic leukodystrophy	PP, motor impairment	bilateral frontal PWM, CC; cortical atrophy	ARSA
Krabbe’s disease (GALC)	SP or tetraparesis, PDPN, CD, seizures, cortical blindness	Supratentorial, CWM, PT, splenium of CC and optic radiation, CST; CC atrophy	GALC
VWM (CACH)	migraine, PP, dementia, PBP, SP	enlargement of the lateral ventricles; WM	EIF2B
HDLS/POLD	behavioral changes, dementia, motor impairment, epilepsy	internal capsules, CST; WM with non-enhancing; frontal lobes atrophy	CSF1R
ADLD	AS, BBD, OH, PS, ataxia	frontoparietal WM, CP, CST, CC	LMNB1
Cerebrotendinous xanthomatosis	PP, SP, CA, polyneuropathy, tendon xanthomatas	dentate nucleus, CWM, CP, PT, PWN, CC, basal ganglia; brain and cerebellar atrophy	CYP27A1
NHD/PLOSL	PP, memory loss, dementia, skeletal abnormalities	nonspecific WM; cortical atrophy	TREM2 DAP12
CADASIL	migraines, TIA, strokes, PP, CD	PWM in the centrum semiovale, external capsules and anterior temporal poles	NOTCH3
CARASIL	TIA, strokes	diffuse WM changes, lacunar infarcts	HTRA1

X-ALD X-linked adrenoleukodystrophy, VWM Vanishing white matter disease, CACH childhood ataxia with central hypomylination, HDLS hereditary diffuse leukoencephalopathy with neuroaxonal spheroids, POLD Autosomal dominant pigmentary type of orthochromatic leucodystrophy, ADLD Adult-onset autosomal dominant leukodystrophy, NHD Nasu-Hakola disease, PLOSL polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, SP spastic paraparesis, PP psychiatric problems, PBP pseudobulbar palsy, WM white matter, CWM cerebellar WM, PT pyramidal tracts, CD cognitive decline, AS autonomic symptoms, BBD bowel and bladder dysfunction, OH orthostatic hypotension, PS pyramidal symptoms, CA cerebellar ataxia, TIA transient ischemic attacks, PDPN peripheral demyelinating polyneuropathy, CST corticospinal tracts, CC corpus callosum, PWM periventricular WM, CP cerebellar peduncles

ISSN: 1471-2377