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187:(parts of the brain). Numbers represent different patients. Figure 9a shows an MRI of a patient at age 4 months and figure 9b shows the same patient at age 11 years. There is no progression of the lesions between successive MRI in patient 9. Note that in all patients, the pons is very small but has a relative sparing of its bulging, mainly in its superior part. Hypoplasia predominates at the lower part of the pons. Vermis hypoplasia is very variable, severe in patient 13, very slight in patient 10-11-12 and also predominates at the inferior part. B.
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198:(one of two halves of a part of the brain) hypoplasia. Hemispheres are frequently asymmetric. Note that the vermis does not protrude from the hemispheres indicating similar involvement of the vermis and the hemispheres. This pattern is different from that of PCH2 in which the vermis is relatively spared leading to the classic image of a "dragonfly", the protruding vermis being the body of the dragonfly and the hemispheres, the wings.
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148:(dysmorphism) of patients with one form of pontocerebellar hypoplasia due to mutations in the CASK gene. A and B: patient at 1 year (A) and 4 years (B). C: patient, 18 months. D: patient, 13 years. E: patient, 13 years. F: patient, 12 years. Note minor facial dysmorphism: round face, small chin, well-drawn eyebrows in the younger patients; longer face, high and large nasal bridge, long nose, protruding
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van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F (2018) Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and
268:, which means that parents of an affected child each carry only one copy of the damaged gene. In each parent the other copy performs its proper function and they display no signs of PCH. A child inheriting two damaged copies of the gene will be affected by PCH.
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There are different signs and symptoms for different forms of pontocerebellar hypoplasia, at least six of which have been described by researchers. All forms involve abnormal development of the brain, leading to slow development, movement problems, and
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The severity of different forms of PCH varies, but many children inheriting the mutated gene responsible do not survive infancy or childhood; nevertheless, some individuals born with PCH have reached adulthood.
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Severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination
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Mutations in the genes that cause PCH produce faults in the production of chemicals, usually enzymes, that are required for the development of nerve cells (
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Severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin
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Anderson, C; Davies, JH; Lamont, L; Foulds, N (April 2011). "Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?".
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258:(PCH2 and PCH4). The genes associated with PCH3 and PCH5 have not yet been identified.
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Pontocerebellar hypoplasia is caused by mutations in genes including
Sepsecs gene,
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Another gene that has been associated with this condition is coenzyme A synthase (
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Pontine and cerebellar hypoplasia is also observed in certain phenotypes of
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Mental retardation and microcephaly with pontine and cerebellar hypoplasia
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Pontocerebellar hypoplasia is inherited in an autosomal recessive manner
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Spinal muscular atrophy with lower extremity predominance (SMALED)
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Mukherjee, K; Slawson, JB; Christmann, BL; Griffith, LC (2014).
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167:(MRI) examples of patients with pontocerebellar hypoplasia with
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arthrogryposis. Eur J Hum Genet doi: 10.1038/s41431-018-0233-0
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The following values seem to be aberrant in children with
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Namavar, Y; Barth, PG; Poll-The, BT; Baas, F (2011).
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Pontocerebellar hypoplasia is classified as follows:
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Severe psychomotor retardation, abnormal movements,
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1025:. U.S. National Library of Medicine. December 2009
393:degeneration beginning at birth and resulting in
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690:Severe prenatal form, described in one family
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516:Progressive cerebello-cerebral atrophy (PCCA)
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1171:American Journal of Medical Genetics Part A
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117:fashion. There is no known cure for PCH.
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617:; described only in a handful of cases.
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40:Non-syndromic pontocerebellar hypoplasia
958:Millen KJ, Gleeson JG (February 2008).
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736:mitochondrial respiratory chain defects
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2253:Distal hereditary motor neuronopathies
1926:Template:Demyelinating diseases of CNS
694:Olivopontocerebellar hypoplasia (OPCH)
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2104:Idiopathic intracranial hypertension
960:"Cerebellar development and disease"
175:images showing different degrees of
16:Group of neurodegenerative disorders
1293:Online Mendelian Inheritance in Man
1278:Online Mendelian Inheritance in Man
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1124:Online Mendelian Inheritance in Man
1109:Online Mendelian Inheritance in Man
1095:Online Mendelian Inheritance in Man
1050:Frontiers in Molecular Neuroscience
85:) is a heterogeneous group of rare
2335:Infantile progressive bulbar palsy
665:, and early death following birth
659:brief involuntary muscle twitching
649:Severe prenatal form of PCH2 with
441:Volendam neurodegenerative disease
191:images showing varying degrees of
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2038:Template:Cerebrovascular diseases
1841:Frontotemporal lobar degeneration
1218:Orphanet Journal of Rare Diseases
93:and characterised by progressive
2058:For more detailed coverage, see
2036:For more detailed coverage, see
2007:For more detailed coverage, see
1973:For more detailed coverage, see
1924:For more detailed coverage, see
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663:brief episodes without breathing
651:excess fluid in the amniotic sac
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548:, spasticity, and early-onset
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280:) and for properly processing
179:(incomplete formation) of the
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2392:Autosomal recessive disorders
2351:Amyotrophic lateral sclerosis
2236:Hereditary spastic paraplegia
2094:Normal pressure hydrocephalus
261:The mutated genes in PCH are
2320:Progressive muscular atrophy
1019:"Pontocerebellar hypoplasia"
2382:Neurodegenerative disorders
1830:Primary progressive aphasia
868:X-linked mental retardation
87:neurodegenerative disorders
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2152:Hashimoto's encephalopathy
1858:Posterior cortical atrophy
1679:Striatonigral degeneration
1530:Cavernous sinus thrombosis
976:10.1016/j.conb.2008.05.010
165:Magnetic resonance imaging
79:Pontocerebellar hypoplasia
32:Pontocerebellar hypoplasia
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2084:Intracranial hypertension
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1513:Herpesviral encephalitis
1406:C580383 C580383, C580383
1337:10.3389/fnana.2013.00029
1063:10.3389/fnmol.2014.00058
152:, in the older patients.
97:of various parts of the
19:Not to be confused with
1837:Frontotemporal dementia
1523:Encephalitis lethargica
1023:Genetics Home Reference
363:Spinal muscular atrophy
357:spinal muscular atrophy
128:intellectual impairment
2387:Neurogenetic disorders
2142:Hepatic encephalopathy
1231:10.1186/1750-1172-6-50
901:This section is empty.
433:Dyskinetic movements,
355:; resembles infantile
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2157:Static encephalopathy
1880:Mitochondrial disease
1718:Spasmodic torticollis
1628:Basal ganglia disease
321:Distinctive features
21:cerebellar hypoplasia
2147:Toxic encephalopathy
1853:Lewy bodies dementia
1183:10.1002/ajmg.a.33897
769:episodes, seizures,
722:in the newborn with
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1578:Meningoencephalitis
1518:Limbic encephalitis
964:Curr Opin Neurobiol
655:muscle contractures
615:developmental delay
407:developmental delay
395:decreased body tone
391:spinal motor neuron
220:2-ketoglutaric acid
115:autosomal recessive
2231:Pseudobulbar palsy
1969:Status epilepticus
1920:Multiple sclerosis
1757:Myoclonic epilepsy
1620:movement disorders
1566:Acute disseminated
1508:Viral encephalitis
1416:External resources
542:mental retardation
121:Signs and symptoms
109:(particularly the
89:caused by genetic
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2247:
2243:
2242:
2237:
2234:
2232:
2229:
2227:
2224:
2223:
2222:
2220:
2216:
2215:
2213:
2211:
2207:
2201:
2198:
2196:
2193:
2192:
2190:
2188:
2184:
2181:
2179:
2175:
2172:
2168:
2158:
2155:
2153:
2150:
2148:
2145:
2143:
2140:
2138:
2137:Reye syndrome
2135:
2133:
2130:
2129:
2127:
2123:
2117:
2114:
2112:
2109:
2105:
2102:
2100:
2097:
2095:
2092:
2090:
2089:Hydrocephalus
2087:
2086:
2085:
2082:
2081:
2079:
2077:
2073:
2061:
2057:
2056:
2055:
2052:
2051:
2049:
2045:
2039:
2035:
2033:
2030:
2028:
2025:
2024:
2022:
2020:
2016:
2010:
2006:
2004:
2001:
1999:
1996:
1994:
1991:
1990:
1988:
1986:
1982:
1976:
1972:
1970:
1967:
1965:
1962:
1960:
1957:
1956:
1954:
1952:
1948:
1944:
1941:
1939:
1933:
1927:
1923:
1921:
1918:
1916:
1913:
1911:
1908:
1907:
1905:
1903:
1902:Demyelinating
1899:
1889:
1886:
1885:
1883:
1881:
1877:
1871:
1868:
1867:
1866:
1865:
1859:
1856:
1854:
1851:
1847:
1844:
1843:
1842:
1838:
1835:
1831:
1828:
1824:
1821:
1820:
1819:
1816:
1815:
1814:
1811:
1810:
1808:
1806:
1802:
1796:
1793:
1791:
1790:Restless legs
1788:
1784:
1781:
1779:
1776:
1775:
1774:
1771:
1770:
1765:
1762:
1758:
1755:
1754:
1753:
1750:
1746:
1743:
1742:
1741:
1738:
1736:
1733:
1729:
1728:Blepharospasm
1726:
1724:
1721:
1719:
1716:
1714:
1711:
1710:
1709:
1706:
1705:
1704:
1701:
1700:
1695:
1692:
1690:
1687:
1685:
1684:Hemiballismus
1682:
1680:
1677:
1673:
1670:
1669:
1668:
1665:
1661:
1658:
1657:
1656:
1653:
1649:
1646:
1644:
1641:
1639:
1636:
1635:
1634:
1631:
1630:
1629:
1626:
1625:
1623:
1621:
1616:
1612:
1609:
1607:
1603:
1600:
1598:
1593:
1589:
1579:
1576:
1574:
1571:
1567:
1564:
1563:
1562:
1559:
1558:
1556:
1554:
1549:
1541:
1538:
1537:
1536:
1535:Brain abscess
1533:
1531:
1528:
1524:
1521:
1519:
1516:
1514:
1511:
1509:
1506:
1505:
1504:
1501:
1500:
1498:
1496:
1492:
1489:
1487:
1483:
1479:
1475:
1467:
1462:
1460:
1455:
1453:
1448:
1447:
1444:
1431:
1427:
1426:
1422:
1421:
1418:
1414:
1407:
1403:
1402:
1398:
1395:
1394:
1390:
1386:
1385:
1382:
1377:
1373:
1366:
1357:
1353:
1348:
1343:
1338:
1333:
1329:
1325:
1321:
1314:
1311:
1304:
1301:
1298:
1294:
1289:
1286:
1283:
1279:
1274:
1271:
1268:
1264:
1259:
1256:
1251:
1247:
1242:
1237:
1232:
1227:
1223:
1219:
1215:
1208:
1205:
1200:
1196:
1192:
1188:
1184:
1180:
1177:(4): 667–72.
1176:
1172:
1165:
1162:
1159:
1155:
1150:
1147:
1144:
1140:
1135:
1132:
1129:
1125:
1120:
1117:
1114:
1110:
1105:
1102:
1099:
1096:
1091:
1088:
1083:
1079:
1074:
1069:
1064:
1059:
1055:
1051:
1047:
1040:
1037:
1024:
1020:
1014:
1012:
1010:
1008:
1006:
1004:
1000:
995:
991:
986:
981:
977:
973:
969:
965:
961:
954:
951:
944:
940:
937:
936:
932:
930:
923:
915:
912:December 2017
906:
902:
898:
895:
891:
890:
884:
882:
880:
875:
873:
869:
860:
857:
854:
852:
851:
847:
845:
842:
838:
835:
833:
829:
825:
822:
820:
819:
815:
813:
810:
806:
803:
800:
796:
793:
791:
790:
786:
784:
781:
777:
774:
772:
768:
764:
761:
758:
756:
755:
751:
749:
746:
742:
739:
737:
733:
729:
725:
721:
717:
714:
712:
711:
707:
705:
702:
698:
695:
692:
689:
686:
684:
683:
679:
677:
674:
670:
667:
664:
660:
656:
652:
648:
645:
643:
642:
638:
636:
633:
629:
626:
622:
619:
616:
612:
608:
607:optic atrophy
604:
603:short stature
600:
597:
595:
594:
590:
588:
585:
581:
578:
575:
572:
570:
569:
565:
563:
560:
557:
556:
553:
551:
547:
543:
539:
536:
534:
533:
529:
527:
524:
520:
517:
514:
512:
509:
507:
506:
502:
500:
497:
493:
490:
488:
485:
483:
482:
478:
476:
473:
469:
466:
464:
461:
459:
458:
454:
452:
449:
445:
442:
439:
437:(frequently)
436:
432:
429:
427:
426:
422:
420:
417:
413:
410:
408:
404:
400:
396:
392:
388:
385:
383:
382:
378:
376:
373:
369:
366:
364:
360:
358:
354:
350:
349:anterior horn
346:
343:
341:
340:
336:
334:
331:
327:
318:
313:
308:
301:
298:
292:
287:
285:
283:
279:
271:
269:
267:
264:
259:
257:
253:
249:
245:
241:
233:
231:
229:
225:
221:
217:
213:
209:
197:
194:
190:
186:
182:
178:
174:
170:
166:
160:
155:
151:
147:
141:
136:
131:
129:
120:
118:
116:
112:
108:
104:
100:
96:
92:
88:
84:
80:
71:
67:
63:
61:
57:
52:
48:
43:
39:
35:
30:
22:
2345:
2307:
2244:
2217:
2178:Degenerative
1915:Inflammatory
1862:
1795:Stiff-person
1633:Parkinsonism
1606:Degenerative
1503:Encephalitis
1486:Inflammation
1476:, primarily
1423:
1399:
1387:
1327:
1323:
1313:
1303:
1288:
1273:
1258:
1221:
1217:
1207:
1174:
1170:
1164:
1149:
1134:
1119:
1104:
1090:
1053:
1049:
1039:
1029:20 September
1027:. Retrieved
1022:
967:
963:
953:
927:
909:
905:adding to it
900:
876:
870:– so called
865:
848:
816:
787:
752:
730:, increased
708:
693:
680:
639:
624:
620:
611:microcephaly
591:
566:
546:microcephaly
530:
515:
503:
479:
455:
440:
423:
403:microcephaly
379:
361:
337:
296:
275:
260:
254:(PCH6); and
237:
228:suberic acid
205:
124:
101:such as the
82:
78:
77:
2330:Fazio–Londe
2170:Both/either
1964:Generalised
1823:Early-onset
1818:Alzheimer's
1553:spinal cord
970:(1): 12–9.
832:myelination
405:and global
224:adipic acid
196:hemispheric
37:Other names
2376:Categories
1938:paroxysmal
1910:Autoimmune
1703:Dyskinesia
1573:Meningitis
1551:Brain and
945:References
601:Seizures,
193:cerebellar
177:hypoplasia
103:cerebellum
1935:Episodic/
1813:Tauopathy
1764:Akathisia
1752:Myoclonus
1735:Athetosis
1667:Tauopathy
885:Treatment
799:hypotonia
763:Hypotonia
724:hypotonia
613:, severe
598:7q11–q21
540:Profound
486:19q13.42
288:Diagnosis
272:Mechanism
266:recessive
263:autosomal
210:defects:
208:CASK gene
107:brainstem
91:mutations
69:Treatment
64:Neurology
60:Specialty
2301:SMALED2B
2296:SMALED2A
1993:Migraine
1985:Headache
1951:epilepsy
1947:Seizures
1805:Dementia
1708:Dystonia
1425:Orphanet
1356:24027500
1295:(OMIM):
1280:(OMIM):
1265:(OMIM):
1250:21749694
1199:37977323
1191:21594990
1156:(OMIM):
1141:(OMIM):
1126:(OMIM):
1111:(OMIM):
1097:(OMIM):
1082:25071438
994:18513948
933:See also
924:Outcomes
855:11q12.1
794:16q24.3
687:17q25.1
646:17q25.1
621:CLAM-PCH
550:epilepsy
537:17p13.3
435:seizures
430:17q25.1
250:(PCH2);
242:(PCH1);
216:pyruvate
173:Sagittal
2313:SMA-PME
2308:SMA-PCH
2291:SMALED1
2003:Tension
1998:Cluster
1723:Meige's
1540:Amoebic
1396:: Q04.3
1347:3759752
1241:3159098
1073:4075472
985:2474776
823:1p13.3
759:1p34.1
732:lactate
718:Severe
573:1q25.3
510:4p15.2
505:SEPSECS
462:3p25.2
386:9p13.2
278:neurons
212:lactate
189:Coronal
150:maxilla
95:atrophy
72:Unknown
2032:Stroke
1846:Pick's
1773:Tremor
1740:Chorea
1354:
1344:
1330:: 29.
1297:615803
1282:615809
1267:614961
1248:
1238:
1224:: 50.
1197:
1189:
1158:608027
1143:615851
1128:614678
1113:607596
1080:
1070:
1056:: 58.
992:
982:
872:MICPCH
844:615803
840:PCH10
812:615809
789:CHMP1A
783:614961
767:apneic
748:614969
704:611523
682:TSEN54
676:610204
641:TSEN54
635:225753
587:608027
568:TSEN15
562:617026
558:PCH2F
526:615851
522:PCH2E
499:613811
495:PCH2D
481:TSEN34
475:612390
471:PCH2C
451:612389
447:PCH2B
425:TSEN54
419:277470
415:PCH2A
381:EXOSC3
375:614678
371:PCH1B
344:14q32
333:607596
329:PCH1A
256:TSEN54
248:TSEN34
234:Causes
226:, and
185:vermis
2346:both:
2278:DSMA1
2273:SMAX2
2268:SMAX1
2248:only:
2221:only:
2125:Other
2047:Other
1959:Focal
1592:Brain
1495:Brain
1430:98523
1195:S2CID
879:COASY
818:AMPD2
808:PCH9
779:PCH8
744:PCH7
728:edema
715:6q15
710:RARS2
700:PCH6
672:PCH5
631:PCH4
583:PCH3
532:VPS53
457:TSEN2
317:Locus
303:Type
252:RARS2
244:TSEN2
99:brain
1949:and
1660:PKAN
1655:NBIA
1401:MeSH
1352:PMID
1246:PMID
1187:PMID
1175:155A
1078:PMID
1031:2014
990:PMID
850:CLP1
754:TOE1
593:PCLO
339:VRK1
312:Gene
307:OMIM
240:VRK1
183:and
181:pons
169:CASK
111:pons
2263:SMA
2246:LMN
2219:UMN
2210:MND
2076:CSF
2027:TIA
1672:PSP
1648:NMS
1617:and
1478:CNS
1389:ICD
1342:PMC
1332:doi
1236:PMC
1226:doi
1179:doi
1068:PMC
1058:doi
980:PMC
972:doi
907:.
881:).
282:RNA
105:or
83:PCH
2378::
2187:SA
1694:OA
1689:HD
1638:PD
1428::
1404::
1393:10
1350:.
1340:.
1326:.
1322:.
1244:.
1234:.
1220:.
1216:.
1193:.
1185:.
1173:.
1076:.
1066:.
1052:.
1048:.
1021:.
1002:^
988:.
978:.
968:18
966:.
962:.
874:.
765:,
661:,
657:,
653:,
623:,
605:,
397:,
246:,
222:,
218:,
214:,
130:.
1839:/
1594:/
1465:e
1458:t
1451:v
1391:-
1381:D
1358:.
1334::
1328:7
1252:.
1228::
1222:6
1201:.
1181::
1084:.
1060::
1054:7
1033:.
996:.
974::
914:)
910:(
81:(
23:.
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