Disease #04167 (SCA (ataxia, spinocerebellar (SCA)))

Official abbreviation SCA
Name ataxia, spinocerebellar (SCA)
OMIM ID -
Inheritance -
Individuals reported having this disease 98
Phenotype entries for this disease 98
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

98 entries on 1 page. Showing entries 1 - 98.
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00027179 - PubMed: Di Gregorio 2014 4-generation family, 11 affecteds (5F, 6M) - no Italy - - 0 - - SCA see paper; pure form of cerebellar ataxia ELOVL5 ELOVL5, PRSS16, PTK7 3 11 Johan den Dunnen
00027180 - PubMed: Di Gregorio 2014 4 generation family, 3 affecteds (2F, M) - no France - - 0 - - SCA see paper ELOVL5 ELOVL5 1 3 Johan den Dunnen
00027181 - PubMed: Di Gregorio 2014 4-generation family, 7 affecteds (4F, 3M) - no Italy - - 0 - - SCA see paper ELOVL5 ELOVL5 1 7 Johan den Dunnen
00027182 - PubMed: Di Gregorio 2014 4-generation family, 17 affecteds (8F, 9M) - no Italy - - 0 - - SCA see paper ELOVL5 ELOVL5 1 17 Johan den Dunnen
00027183 - PubMed: Di Gregorio 2014 456 index individuals (Europe) ? ? ? (unknown) - - 0 - - SCA - ELOVL5 ELOVL5 2 1 Johan den Dunnen
00111198 - PubMed: Di Bella 2010 - - - - - - 0 - - SCA possibly autosomal recessive AFG3L2 AFG3L2 1 1 Johan den Dunnen
00148466 24935856-FamPatIII6 PubMed: Leonardi 2014 4-generation family, 7 affecteds (4F, 3M) F - Peru - - 0 - - SCA - ATXN10 ATXN10 1 7 Johan den Dunnen
00148467 24935856-FamPatIII2 PubMed: Leonardi 2014 half-brother of III6 M no Peru Amerindian - 0 - - SCA - ATXN10 ATXN10 1 1 Johan den Dunnen
00148524 10330346-FamVNPatiii2 PubMed: Giunti 1999 3-generation family, 1 affected ? - France - - 0 - - SCA - ATXN7 ATXN7 2 1 Johan den Dunnen
00148525 10330346-FamWIPatII1 PubMed: Giunti 1999 2-generation family, 3 affecteds - - France - - 0 - - SCA - ATXN7 ATXN7 2 3 Johan den Dunnen
00148526 10330346-FamPTPatIII1 PubMed: Giunti 1999 3-generation family, affected mother/child - - France - - 0 - - SCA - ATXN7 ATXN7 2 2 Johan den Dunnen
00148527 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00148528 09259274-PatHom PubMed: Matsuyama 1997 homozygous case - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00148529 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00148545 8824876-con PubMed: Limprasert 1996 - - - Thailand - - 0 - - SCA - ATXN3 ATXN3 2 4 Johan den Dunnen
00165115 28686858-FamM1 PubMed: Seixas 2017 4-generation family, 18 affecteds F;M - Portugal - - 0 - - SCA dysarthria (HP:0001260), ataxia (HP:0001251 ) DAB1 DAB1 2 18 Johan den Dunnen
00208463 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208464 09259274-Pat PubMed: Matsuyama 1997 homozygous case - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208465 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208466 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208467 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208468 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208469 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208470 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208471 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208472 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208473 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208474 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208475 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208476 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208477 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208478 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208479 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208480 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 2 Johan den Dunnen
00208481 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208482 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208483 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208484 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208485 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208486 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208487 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208488 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208489 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208490 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208491 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208492 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208493 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208494 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208495 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208496 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208497 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208498 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208499 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208500 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208501 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208502 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208503 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208504 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208505 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208506 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208507 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208508 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208509 09259274-Pat PubMed: Matsuyama 1997 58 SCA cases - - Japan - - 0 - - SCA - CACNA1A CACNA1A 1 1 Johan den Dunnen
00208604 09702684-FamPatIII7 PubMed: Takiyama 1998 5-generation family, 13 affected (5F, 8M) F no Japan - - 0 - - SCA severe ataxia, mild dysarthria, mild down-beat nystagmus, diabetes mellitus CACNA1A CACNA1A 2 13 Johan den Dunnen
00208606 09702684-FamPatIV1 PubMed: Takiyama 1998 PatIV1 M - Japan - - 0 - - SCA moderate ataxia, mild dysarthria, moderate down-beat nystagmus, diabetes mellitus; phenotype not more severe compared to heterozygous cases CACNA1A CACNA1A 1 1 Johan den Dunnen
00208607 09702684-FamPatIII8 PubMed: Takiyama 1998 - M no Japan - - 0 - - SCA severe ataxia, mild dysarthria, mild down-beat nystagmus, diabetes mellitus CACNA1A CACNA1A 2 1 Johan den Dunnen
00208608 09702684-FamPatIII6 PubMed: Takiyama 1998 - M no Japan - - 0 - - SCA mild ataxia, no dysarthria, noe down-beat nystagmus CACNA1A CACNA1A 1 1 Johan den Dunnen
00208609 09702684-FamPatIV5 PubMed: Takiyama 1998 - M yes Japan - - 0 - - SCA mild ataxia, no dysarthria, mild down-beat nystagmus; phenotype not more severe compared to heterozygous cases CACNA1A CACNA1A 1 1 Johan den Dunnen
00234051 FamCA-1Pat33 PubMed: Del-Favero 1998 4-generation family, 20 affected (10F, 10M) F;M no Belgium - - 0 - - SCA see paper; ... ATXN7 ATXN7 2 20 Johan den Dunnen
00249748 Fam1PatI PubMed: Kawaguchi 1994 3-generation family, 3 affected (2F, M) F - Japan - - 0 - - SCA - ATXN3 ATXN3 2 3 Johan den Dunnen
00249749 Fam1PatII PubMed: Kawaguchi 1994 - F - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00249750 Fam1PatIII PubMed: Kawaguchi 1994 - M - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00249751 PatIV PubMed: Kawaguchi 1994 - F - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00249752 PatV PubMed: Kawaguchi 1994 - F - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00249753 PatVI PubMed: Kawaguchi 1994 - F - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00249754 PatVII PubMed: Kawaguchi 1994 - F - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00249755 PatVIII PubMed: Kawaguchi 1994 - F - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00249756 PatIX PubMed: Kawaguchi 1994 - M - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00249757 PatX PubMed: Kawaguchi 1994 - M - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00249758 PatXI PubMed: Kawaguchi 1994 - F - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00249759 PatXII PubMed: Kawaguchi 1994 - M - Japan - - 0 - - SCA - ATXN3 ATXN3 2 1 Johan den Dunnen
00262139 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262140 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262141 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262142 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262143 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262144 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262145 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262146 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262147 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262148 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262149 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262150 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262151 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262152 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262153 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262154 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
00262155 - PubMed: David 1997 SCA patient - - - France - 0 - - SCA - ATXN7 ATXN7 1 1 Johan den Dunnen
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