Diagnostic test: MALATTIE CEREBELLARI CEREBELLAR DISEASES Panel / Illumina Custom panel, Nextera Enrichment Technology / Coding exons and flanking regions of genes List of gene(s) and disease(s) tested: ABCB7, ABHD12, ACO2, COQ8A, AFG3L2, ANO10, APTX, ATCAY, ATG5, ATM, ATP1A3, ATP2B3, ATP8A2, C9orf72, CACNA1A, CACNA1G, CACNB4, CASK, CCDC88C, CLCN2, CLN5, CWF19L1, CYP27A1, DNMT1, EEF2, ELOVL4, ELOVL5, FAT2, FGF12, FGF14, FLVCR1, FXN, GDAP2, GOSR2, GRID2, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, LAMA1, MARS2, MME, MTPAP, NKX6-2, OPHN1, PDYN, PEX7, PHYH, PLD3, PMPCA, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRKCG, PTF1A, PUM1, RNF216, RUBCN, SACS, SCN2A, SCYL1, SETX, SIL1, SLC1A3, SLC25A46, SLC9A1, SLC9A6, SNX14, SPG7, SPTBN2, SQSTM1, STUB1, SYNE1, SYT14, TDP1, TDP2, TGM6, TMEM240, TPP1, TRPC3, TSFM, TTBK2, TTPA, TUBB4A, TWNK, TXN2, UBA5, VAMP1, VLDLR, VPS13D, VWA3B, WDR73, WFS1, WWOX, XRCC1, ADAR, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CAPN1, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, GAD1, GBA2, GJC2, HSPD1, IBA57, KIF1A, KIF5A, KLC2, KLC4, L1CAM, MAG, MARS, NIPA1, NT5C2, PGAP1, PLP1, REEP1, REEP2, RTN2, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, TECPR2, TFG, UCHL1, USP8, VPS37A, WASHC5, WDR48, ZFYVE26, ZFYVE27 Atassia cerebellare autosomica dominante Atassia cerebellare autosomica recessive Atassia cerebellare legata all'X Atassia cerebellare - areflessia - piede cavo - atrofia ottica - sordità neurosensoriale Atassia episodica Atassia spastica autosomica recessiva Atassia spastica autosomica dominante Paraplegia spastica autosomica recessiva Paraplegia spastica autosomica dominante Sindrome MASA Sindrome CRASH Tabella Elenco delle forme di MALATTIE CEREBELLARI e la loro eziologia genetica ATASSIA CEREBELLARE AUTOSOMICA DOMINANTE (ADCA) OMIM# Phenotype Phenotype Gene OMIM# Gene / Reference SCA28 610246 AFG3L2 604581 Rapid-onset ataxia (1) ATP1A3 182350 Pure cerebellar ataxia (1) C9orf72 614260 SCA42 616795 CACNA1G 604065 SCA40 616053 CCDC88C 611204 ADCADN 604121 DNMT1 126375 SCA26 609306 EEF2 130610 SCA34 133190 ELOVL4 605512 SCA38 615957 ELOVL5 611805 SCA45 617769 FAT2 604269 Cerebellar atrophy with epileptic encephalopathy (1) FGF12 601513 SCA27 609307 FGF14 601515 GRID2-related spinocerebellar ataxia (1) GRID2 602368 SCA44 617691 GRM1 604473 SCA15 606658 ITPR1 147265 SCA29 117360 ITPR1 147265 SCA13 605259 KCNC3 176264 SCA19 607346 KCND3 605411 SCA43 617018 MME 120520 SCA23 610245 PDYN 131340 SCA46 617770 PLD3 615698 SCA14 605361 PRKCG 176980 SCA47 617931 PUM1 607204 SCA5 600224 SPTBN2 604985 SCA48 618093 STUB1 607207 SCA35 613908 TGM6 613900 SCA21 607454 TMEM240 616101 SCA41 616410 TRPC3 602345 SCA11 604432 TTBK2 611695 Hypomyelinating leukoencephalopathy 612438 TUBB4A 602662 ATASSIA CEREBELLARE AUTOSOMICA RECESSIVA (SCAR) (Disordini Singolo-gene) OMIM# Phenotype / Phenotype Gene OMIM# Gene Reference Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and 612674 ABHD12 613599 cataract Infantile cerebellar-retinal degeneration 614559 ACO2 100850 Coenzyme Q10 deficiency, primary, 4 612016 ADCK3 (COQ8A) 606980 Spinocerebellar ataxia, autosomal recessive 10 613728 ANO10 613726 Ataxia, early-onset, with oculomotor apraxia and 208920 APTX 606350 hypoalbuminemia Ataxia, cerebellar, Cayman type 601238 ATCAY 608179 ?Spinocerebellar ataxia, autosomal recessive 25 617584 ATG5 604261 Ataxia-telangiectasia 208900 ATM 607585 Cerebellar ataxia, mental retardation, and dysequilibrium 615268 ATP8A2 605870 syndrome 4 Leukoencephalopathy with ataxia 615651 CLCN2 600570 Ceroid lipofuscinosis, neuronal, 5 256731 CLN5 608102 Spinocerebellar ataxia, autosomal recessive 17 616127 CWF19L1 616120 Cerebrotendinous xanthomatosis 213700 CYP27A1 606530 Ataxia, posterior column, with retinitis pigmentosa 609033 FLVCR1 609144 Friedreich ataxia 229300 FXN 606829 Spinocerebellar ataxia, autosomal recessive 27 618369 GDAP2 618128 Epilepsy, progressive myoclonic 6 614018 GOSR2 604027 Spinocerebellar ataxia, autosomal recessive 18 616204 GRID2 602368 Spinocerebellar ataxia, autosomal recessive 13 614831 GRM1 604473 SESAME syndrome 612780 KCNJ10 602208 Poretti-Boltshauser syndrome 615960 LAMA1 150320 Refsum disease 266500 PEX7 601757 (1) PHYH 602026 Spinocerebellar ataxia, autosomal recessive 2 213200 PMPCA 613036 Ataxia-oculomotor apraxia 4 616267 PNKP 605610 Boucher-Neuhauser syndrome 215470 PNPLA6 603197 Mitochondrial recessive ataxia syndrome (MIRAS) 157640 POLG 174763 (1) POLR3A 614258 Cerebellar atrophy with hypomyelination (1) POLR3B 614366 Pancreatic and cerebellar agenesis 609069 PTF1A 607194 Pancreatic and cerebellar agenesis 609069 PTF1A 607194 Cerebellar ataxia and hypogonadotropic hypogonadism 212840 RNF216 609948 Spinocerebellar ataxia, autosomal recessive 15 615705 RUBCN (KIAA0226) 613516 Spastic ataxia, Charlevoix-Saguenay type 270550 SACS 604490 Spinocerebellar ataxia, autosomal recessive 21 616719 SCYL1 607982 Spinocerebellar ataxia, autosomal recessive 1 606002 SETX 608465 Marinesco-Sjogren syndrome 248800 SIL1 608005 Pontocerebellar hypoplasia (1) SLC25A46 610826 Lichtenstein-Knorr syndrome 616291 SLC9A1 107310 Spinocerebellar ataxia, autosomal recessive 20 616354 SNX14 616105 Spinocerebellar ataxia, autosomal recessive 14 615386 SPTBN2 604985 Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 SQSTM1 601530 childhood-onset Spinocerebellar ataxia, autosomal recessive 16 615768 STUB1 607207 Spinocerebellar ataxia, autosomal recessive 8 610743 SYNE1 608441 Spinocerebellar ataxia, autosomal recessive 11 614229 SYT14 610949 Spinocerebellar ataxia, autosomal recessive with axonal 607250 TDP1 607198 neuropathy Spinocerebellar ataxia, autosomal recessive 23 616949 TDP2 605764 Spinocerebellar ataxia, autosomal recessive 7 609270 TPP1 607998 AR cardiomyopathy with ataxia (1) TSFM 604723 Ataxia with isolated vitamin E deficiency 277460 TTPA 600415 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 TWNK 606075 Early-onset neurodegeneration (1) TXN2 609063 Spinocerebellar ataxia, autosomal recessive 24 617133 UBA5 610552 Cerebellar hypoplasia and mental retardation with or without 224050 VLDLR 192977 quadrupedal locomotion 1 Spinocerebellar ataxia, autosomal recessive 4 607317 VPS13D 608877 Spinocerebellar ataxia, autosomal recessive 22 616948 VWA3B 614884 Galloway-Mowat syndrome 1 251300 WDR73 616144 Wolfram syndrome 1 222300 WFS1 606201 Spinocerebellar ataxia, autosomal recessive 12 614322 WWOX 605131 Spinocerebellar ataxia, autosomal recessive 26 617633 XRCC1 194360 ATASSIA CEREBELLARE X-LINKED (SCAX) OMIM# Phenotype Phenotype Gene OMIM# Gene / Reference Anemia, sideroblastic, with ataxia 301310 ABCB7 300135 Spinocerebellar ataxia, X-linked 1 302500 ATP2B3 300014 Mental retardation and microcephaly with pontine and 300749 CASK 300172 cerebellar hypoplasia Mental retardation, X-linked, with cerebellar hypoplasia and 300486 OPHN1 300127 distinctive facial appearance Mental retardation, X-linked syndromic, Christianson type 300243 SLC9A6 300231 ATASSIA EPISODICA (EA) OMIM# Phenotype / Phenotype Gene OMIM# Gene Reference CAPOS syndrome 601338 ATP1A3 182350 EA2 108500 CACNA1A 601011 EA5 613855 CACNB4 601949 EA1 160120 KCNA1 176260 Episodic ataxia with neonatal epilepsy (1) SCN2A 182390 EA6 612656 SLC1A3 600111 DISTURBI CON SPASTICITÀ E ATASSIA CEREBELLARE (SPAX) OMIM# Phenotype / Phenotype Gene OMIM# Gene Reference Spastic ataxia 5, autosomal recessive 614487 AFG3L2 604581 Spastic ataxia 2, autosomal recessive 611302 KIF1C 603060 Spastic ataxia 3, autosomal recessive 611390 MARS2 609728 Spastic ataxia 4, autosomal recessive 613672 MTPAP 613669 Spastic ataxia 8, autosomal recessive, with hypomyelinating 617560 NKX6-2 605955 leukodystrophy Spastic ataxia, Charlevoix-Saguenay type 270550 SACS 604490 Spastic paraplegia 7, autosomal recessive 607259 SPG7 602783 Spastic ataxia 1, autosomal dominant 108600 VAMP1 185880 PARAPLEGIE SPASTICHE EREDITARIE (PSE) Phenotype OMIM# Phenotype / Gene OMIM# Gene Reference Spastic paraplegia (2) ADAR 146920 Spastic paraplegia 9A, autosomal dominant 601162 ALDH18A1 138250 Spastic paraplegia (2) ATAD3A 612316 Spastic paraplegia 3A, autosomal dominant 182600 ATL1 606439 Spastic paraplegia (2) ATP2B4 108732 Spastic paraplegia (2) BICD2 609797 Silver spastic paraplegia syndrome 270685 BSCL2 606158 Spastic paraplegia 73, autosomal dominant 616282 CPT1C 608846 Spastic paraplegia (2) DNM2 602378 Spastic paraplegia 13, autosomal dominant 605280 HSPD1 118190 Spastic paraplegia 10, autosomal dominant 604187 KIF5A 602821 Spastic paraplegia 6, autosomal dominant 600363 NIPA1 608145 Spastic paraplegia 31, autosomal dominant 610250 REEP1 609139 Spastic paraplegia 72, autosomal recessive 615625 REEP2 609347 Spastic paraplegia 12, autosomal dominant 604805 RTN2 603183 Spastic paraplegia 42, autosomal dominant 612539 SLC33A1 603690 Spastic paraplegia 4, autosomal dominant 182601 SPAST 604277 Spastic paraplegia 7, autosomal recessive 607259 SPG7 602783 Spastic paraplegia (2) TUBB4A 602662 Spastic paraplegia 8, autosomal dominant 603563 WASHC5 610657 Spastic paraplegia 33, autosomal dominant 610244 ZFYVE27 610243 Mast syndrome 248900 SPG21 608181 Spastic paraplegia 9B, autosomal recessive 616586 ALDH18A1 138250 Spastic paraplegia (2) ALDH3A2 609523 Spastic paraplegia 63 615686 AMPD2 102771 Spastic paraplegia 47, autosomal recessive 614066 AP4B1 607245 Spastic paraplegia 51, autosomal recessive 613744 AP4E1 607244 Spastic paraplegia 50, autosomal recessive