Molekulargenetik
Neurologische Erkrankungen
Anforderungsbeleg
AFB Molekulargenetik
Alzheimer-Demenz (AD)
APP, CHMP2B, FUS, GRN, ITM2B, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, TARDBP, TREM2, UBQLN2, VCP, VPS35
Ataxia teleangiectasia
ATM
CADASIL Syndrom
NOTCH3
Chorea Huntington-like (HD-like)
DRPLA (ATN1), HD-like 1 (PRNP), HD-like 2 (JPH3), HD-like 4 (TBP)
Creutzfeldt-Jacob-Krankheit (CJD)
PRNP
DRPLA
ATN1
Episodische Ataxie
CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3
Fragiles-X-assoziiertes Tremor / Ataxie Syndrom (FXTAS)
FMR1
Frontotemporale Demenz (FTD)
APP, C9ORF72, CHCHD10, CHMP2B, FUS, GRN, ITM2B, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SIGMAR1, TARDBP, TBK1, TREM2, UBQLN2, VCP
HereditÀre spastische Paraplegie (HSP / SPG)
ATL1, CYP7B1, KIF5A, REEP1, SPAST, SPG11, SPG7, ZFYVE26
HereditĂ€re spastische Paraplegie (HSP / SPG) â autosomal rezessiv und X- chromosomal
CYP7B1, L1CAM, PLP1, SLC16A2, SPG11, SPG7, ZFYVE26
HereditĂ€re spastische Paraplegie (HSP / SPG) â rein
ATL1, CYP7B1, HSPD1, KIF5A, NIPA1, REEP1, RTN2, SLC33A1, SPAST, SPG11, SPG7, ZFYVE27
Kreatin Defizienz Syndrom
SLC6A8
Leukodystrophie, autosomal-dominant
LMNB1
Morbus Wilson
ATP7B
Parkinson
ATP1A3, FBXO7, LRRK2, PARK2 (PRKN), PARK7 (DJ1), PINK1, SLC6A3, SNCA, VPS35
Pick-Krankheit (PIDB)
MAPT, PSEN1
SpinocerebellÀre Ataxien (SCA)
DRPLA, FGF14, FXTAS, ITPR1, PNPLA6, PRKCG, SCA 1, SCA 17, SCA 2, SCA 3, SCA 6, SCA 7, SPG7, SPTBN2
SpinocerebellĂ€re Ataxien (SCA) â autosomal dominant, erweiterte Diagnostik
AFG3L, ATP1A3, CACNA1A, CACNA1G, CACNB4, CCDC88C, DNAJC5, DNMT1, EEF2, ELOVL4, ELOVL5, KCNA1, KCND3, SCN2A, SLC1A3, SPG7, TGM6, TRPC3
SpinocerebellĂ€re Ataxien (SCA) â autosomal rezessiv und X-chromosomal, erweiterte Diagnostik
ABCB7, AFG3L2, AHI1, ARL13B, ATP8A2, C5orf42, CA8, CC2D2A, CEP290, CEP41, CLCN2, CLN5, CSPP1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FLVCR1, FXN, GBA2, GOSR2, GRID2, GRM1, INPP5E, KIAA0586, KIF1C, KIF7, MARS2, MRE11A, MTPAP, NPC2, NPHP1, OPA1, PDE6D, PIK3R5, PNKP, POC1B, RPGRIP1L, SACS, SIL1, SNX14, SPTBN2, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, WWOX, ZNF423
Amyotrophe Lateralsklerose (ALS)
ALS2, ANG, C9ORF72, CHCHD10, CHMP2B, FUS, MATR3, SCA1, SCA2, SETX, SOD1, TARDBP, TBK1, UBQLN2, VAPB, VCP
Ataxie mit Okulomotorischer Apraxie
APTX, PIK3R5, PNKP, SETX
Chorea Huntington
HTT
Choreatiforme Bewegungsstörung
ADCY5, ARSA, DRPLA (ATN1), FRRS1L, FTL, GM2A, GNAO1, HD (HTT), HDlike (JPH3, JPH3, KCNA1, NKX2-1, PRNP, RNF216, SCA 1, SCA 2, SCA 3, SCA 6, SCA 7, TBP, VPS13A, XK
Demenz
APOE, APP, C9ORF72, CHCHD10, CHMP2B, GRN, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, VCP
Dystonie (DYT)
ADCY5, ANO3, ANO5, ATP1A3, GCH1, GNAL, PANK2, PNKD, PRKRA, PRRT2, SGCE, SLC2A1, SPR, TAF1, TH, THAP1, TOR1A, TUBB4A
Fatale familiÀre Insomnie (FFI)
PRNP
Friedreich Ataxie
FXN
Gerstmann-StrÀussler-Scheinker Syndrom (GSD)
PRNP
HereditĂ€re spastische Paraplegie (HSP / SPG) â autosomal dominant
ATL1, BSCL2, HSPD1, KIF5A, NIPA1, REEP1, RTN2, SLC33A1, SPAST, SPG7, ZFYVE27
HereditĂ€re spastische Paraplegie (HSP / SPG) â komplex
BSCL2, KIF5A, L1CAM, PLP1, SLC16A2, SPG11, SPG7, ZFYVE26, ZFYVE27
Juveniler Schlaganfall
COL4A1, COL4A2, GLA, NOTCH3, TREX1
L1 Syndrom / MASA Syndrom / X-chromosomale komplizierte spastische Paraplegie
L1CAM
Mikroangiopathien
COL4A1, COL4A2, CTC1, GLA, HTRA1, NOTCH3, TREX1
Neurodegeneration mit Eisenablagerung im Gehirn (NBIA)
ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, IBA57, PANK2, PLA2G6, WDR45
Pelizaeus-Merzbacher Erkrankung
PLP1
Spastische Ataxien (SPAX)
AFG3L2, KIF1C, MARS2, MTPAP, SACS, SPG7, VAMP1
SpinocerebellĂ€re Ataxien (SCA) â autosomal dominant, Basisdiagnostik
DRPLA, FGF14, FXTAS, ITPR1, KCNC3, PDYN, PRKCG, SCA 1, SCA 17, SCA 2, SCA 3, SCA 6, SCA 7, SPTBN2, TMEM240, TTBK2, VAMP1
SpinocerebellĂ€re Ataxien (SCA) â autosomal rezessiv und X-chromosomal, Basisdiagnostik
ADCK3, ANO10, APTX, FXN, PNPLA6, POLG, SETX, SPG7, STUB1