Klinische FragestellungLeukodystrophien, Beginn im Erwachsenenalter; Differentialdiagnose

NGS +

• Alias: Leukodystrophies, adult
• Allelic: Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
• Allelic: Hex A pseudodeficiency (HEXA)
• Allelic: Lateral meningocele syndrome (NOTCH3)
• Allelic: Lung cancer, susceptibility to (ERCC6)
• Allelic: Macular degeneration, age-related, 7 (HTRA1)
• Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
• Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
• Allelic: Microcephaly 26, primary, AD (LMNB1)
• Allelic: Myofibromatosis, infantile 2 (NOTCH3)
• Allelic: Neural tube defects, susceptibility to (MTHFR)
• Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
• Allelic: Premature ovarian failure 11 (ERCC6)
• Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
• Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Schizophrenia, susceptibility to (MTHFR1)
• Allelic: Sialic acid storage disorder, infantile (SLC17A5)
• Allelic: Thromboembolism, susceptibility to (MTHFR)
• Allelic: Thrombosis, hyperhomocysteinemic (CBS)
• Allelic: UV-sensitive syndrome 1 (ERCC6)
• Allelic: UV-sensitive syndrome 2 (ERCC8)
• Allelic: Vascular disease, susceptibility to (MTHFR)
• 3-methylglutaconic aciduria, type I (AUH)
• Adrenoleukodystrophy; Adrenomyeloneuropathy, adult (ABCD1)
• Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
• Aicardi-Goutieres syndrome 2 (RNASEH2B)
• Aicardi-Goutieres syndrome 3 (RNASEH2C)
• Aicardi-Goutieres syndrome 4 (RNASEH2A)
• Aicardi-Goutieres syndrome 5 (SAMHD1)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Alexander disease (GFAP)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• CARASIL syndrome (HTRA1)
• Canavan disease (ASPA)
• Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
• Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
• Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
• Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Combined SAP deficiency (PSAP)
• De Sanctis-Cacchione syndrome (ERCC6)
• Fucosidosis (FUCA1)
• GM2-gangliosidosis, several forms (HEXA)
• Galactosialidosis (CTSA)
• Gaucher disease, atypical (PSAP)
• Glutaricaciduria, type I (GCDH)
• Homocystinuria due to MTHFR deficiency (MTHFR)
• Homocystinuria, B6-responsive + nonresponsive types (CBS)
• Krabbe disease (GALC)
• Krabbe disease, atypical (PSAP)
• L-2-hydroxyglutaric aciduria (L2HGDH syn. L2HGDA)
• Leukodystrophy, adult-onset, AD (LMNB1)
• Leukodystrophy, hypomyelinating, 10 (PICR2)
• Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Leukodystrophy, hypomyelinating, 12 (VPS11)
• Leukodystrophy, hypomyelinating, 13 (HIKESHI)
• Leukodystrophy, hypomyelinating, 14 (UFM1)
• Leukodystrophy, hypomyelinating, 15 (EPRS)
• Leukodystrophy, hypomyelinating, 16 (TMEM106B)
• Leukodystrophy, hypomyelinating, 17 (AIMP2)
• Leukodystrophy, hypomyelinating, 18 (DEGS1)
• Leukodystrophy, hypomyelinating, 19, transient infantile (TMEM63A)
• Leukodystrophy, hypomyelinating, 1; Pelizaeus-Merzbacher disease (PLP1)
• Leukodystrophy, hypomyelinating, 2 (GJC2)
• Leukodystrophy, hypomyelinating, 3 (AIMP1)
• Leukodystrophy, hypomyelinating, 4 (HSPD1)
• Leukodystrophy, hypomyelinating, 5 (FAM126A)
• Leukodystrophy, hypomyelinating, 6 (TUBB4A)
• Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/or hypogonad. hypogonad. (POLR3A)
• Leukodystrophy, hypomyelinating, 8, with/-out oligodontia +/or hypogonad. hypogonad. (POLR3B)
• Leukodystrophy, hypomyelinating, 9 (RARS1)
• Leukoencephalopathy with ataxia (CLCN2)
• Leukoencephalopathy with brain stem, spinal cord involvement, lactate elevation (DARS2)
• Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5)
• Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
• Leukoencephalopathy, progressive, with ovarian failure (AARS2)
• Mannosidosis, alpha-, types I + II (MAN2B1)
• Megalencephalic leukoenceph., subcortical cysts 2B, remitting, with/-out ment. retard. (HEPACAM)
• Megalencephalic leukoencephalopathy, subcortical cysts (MLC1)
• Megalencephalic leukoencephalopathy, subcortical cysts 2A (HEPACAM)
• Metachromatic leukodystrophy (ARSA)
• Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
• Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
• Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
• Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
• Mucolipidosis IV (MCOLN1)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
• Polyglucosan body disease, adult form (GBE1)
• Salla disease (SLC17A5)
• Sjogren-Larsson syndrome (ALDH3A2)
• Tay-Sachs disease (HEXA)