Molekulargenetik

Neurologische Erkrankungen

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) – autosomal rezessiv und X- chromosomal

CYP7B1, L1CAM, PLP1, SLC16A2, SPG11, SPG7, ZFYVE26

HereditĂ€re spastische Paraplegie (HSP / SPG) – 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) – 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) – 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) – autosomal dominant

ATL1, BSCL2, HSPD1, KIF5A, NIPA1, REEP1, RTN2, SLC33A1, SPAST, SPG7, ZFYVE27

HereditĂ€re spastische Paraplegie (HSP / SPG) – 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) – 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) – autosomal rezessiv und X-chromosomal, Basisdiagnostik

ADCK3, ANO10, APTX, FXN, PNPLA6, POLG, SETX, SPG7, STUB1

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