236:
22:
114:
352:
As of 2015, there are approximately 70 known cases of Brown-Vialetto-Van-Laere syndrome worldwide. BVVL was first described in a
Portuguese family, and has since been described in a number of ethnic groups. Reports have shown that BVVL infects females more than males at a rate of 5:1 respectively.
343:
can show variability in age of disease onset and survival. Dipti and Childs described such a situation in which a family had five children that had
Infantile PBP. In this family, three siblings showed sensorineural deafness and other symptoms of BVVL at an older age. The other two siblings showed
335:
The syndrome has previously been considered to have a high mortality rate but the initial response of most patients to the
Riboflavin protocol are very encouraging and seem to indicate a significantly improved life expectancy could be achievable. There are three documented cases of BVVL where the
318:
The first report of BVVL syndrome in
Japanese literature was of a woman that had BVVL and showed improvement after such treatments. The patient was a sixty-year-old woman who had symptoms such as sensorineural deafness, weakness, and atrophy since she was 15 years old. Around the age of 49 the
300:
do. Nathalie syndrome does not involve lower cranial nerve symptoms, so it can be excluded if those are present. If there is evidence of lower motor neuron involvement, Boltshauser syndrome can be excluded. Finally, if there is a family history of the condition, then BVVL is more likely than
161:
The syndrome most often affects children, adolescents, and young adults. As knowledge of BVVL grows some adult patients have now been diagnosed. With prompt treatment the prognosis may be positive with some patients stabilizing and even major improvements noted in certain cases.
869:
Dipti, S; Childs, AM; Livingston, JH; Aggarwal, AK; Miller, M; Williams, C; Crow, YJ (September 2005). "Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease".
195:. Most mortality in patients has been from either respiratory infections or respiratory muscle paralysis. Pathological descriptions of BVVL include injury and depletion of 3rd-7th cranial nerves, loss of the spinal anterior horn cells, degeneration of
336:
patient died within the first five years of the disease. On the contrary, most patients have survived more than 10 years after the onset of their first symptom, and several cases have survived 20–30 years after the onset of their first symptom.
331:
The clinical course of BVVL can vary from one patient to another. There have been cases with progressive deterioration, deterioration followed by periods of stabilization, and deterioration with abrupt periods of increasing severity.
190:
of the tongue, and neurological disorders from the cranial nerves. The neurological manifestations develop insidiously: they usually begin with sensorineural deafness, progress inexorably to paralysis, and often culminate in
971:
Van Laere, J (August 1966). "Paralysie bulbo-pontine chronique progressive familiale avec surdité. Un cas de syndrome de
Klippel-Trenaunay dans la même fratrie – problèmes diagnostiques et génétiques ".
206:
Most cases of deafness are followed by a latent period that can extend anywhere from weeks to years, and this time is usually marked by cranial nerve degeneration. Neurological symptoms of BVVL include
748:
Allison, T; Roncero, I; Forsyth, R; Coffman, K; Pichon, JL (May 2017). "Brown-Vialetto-Van Laere
Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature".
315:
As of 2017, there were case reports that treatment with high doses of riboflavin 5 phosphate can halt the progress of Brown–Vialetto–Van Laere syndrome and in some cases can improve symptoms.
32:
323:. After the treatments, the patient still required respiratory assistance during sleep; however, the patient no longer needed assistance by a respirator during the daytime.
659:
Yamamoto, S; Inoue, K; Ohta, K; Fukatsu, R; Maeda, J; Yoshida, Y; Yuasa, H (2009). "Identification and
Functional Characterization of Rat Riboflavin Transporter 2".
203:. The first symptoms in nearly all cases of BVVL is progressive vision loss and deafness, and the first initial symptoms are seen anywhere from one to three years.
1129:
93:
65:
72:
79:
515:
Sathasivam, S; O’Sullivan, S; Nicolson, A; Tilley, PJB; Shaw, PJ (2000). "Brown-Vialetto-Van Laere syndrome: Case report and literature review".
365:
The syndrome was first described by
Charles Brown in 1894; further accounts by Vialetto and Van Laere followed in 1936 and 1966, respectively.
61:
1134:
1075:
396:
340:
1124:
793:"The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives"
86:
281:
40:
289:
1014:
285:
51:
36:
1086:
1006:
262:
791:
Bosch, Annet M; Stroek, Kevin; Abeling, Nico G; Waterham, Hans R; IJlst, Lodewijk; Wanders, Ronald JA (2012).
374:
1002:
1139:
1020:. The Catalogue for Transmission Genetics in Arabs Database, Centre for Arab Genomic Studies. Archived from
560:"Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54"
297:
273:
155:
319:
patient was officially diagnosed with BVVL, intubated, and then attached to a respirator to improve her
224:
419:
Voudris, KA; Skardoutsou, A; Vagiakou, EA (2002). "Infantile progressive bulbar palsy with deafness".
277:
216:
467:
Prabhu, HV; Brown, MJ (June 2005). "Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology".
200:
192:
183:
179:
934:
895:
773:
540:
492:
444:
1097:
1041:
981:
887:
851:
824:
765:
730:
676:
641:
589:
532:
484:
436:
293:
212:
320:
926:
879:
814:
804:
757:
720:
710:
668:
631:
623:
579:
571:
524:
476:
428:
952:
Vialetto E (1936). "Contributo alla forma ereditaria della paralisi bulbare progressive".
304:
235:
819:
792:
725:
698:
636:
611:
584:
559:
196:
175:
432:
1118:
938:
930:
208:
187:
899:
777:
610:
Johnson, JO; Gibbs, JR; Van
Maldergem, L; Houlden, H; Singleton, AB (October 2010).
544:
496:
883:
448:
266:
1091:
1102:
627:
575:
154:, is a rare degenerative disorder often initially characterized by progressive
954:
Rivista sperimentale di freniatria e medicina legale delle alienazioni mentali
528:
761:
480:
339:
Families with multiple cases of BVVL and, more generally, multiple cases of
891:
855:
828:
809:
769:
734:
680:
645:
593:
536:
488:
440:
985:
715:
354:
353:
However, males usually exhibit more severe symptoms, an earlier onset of
244:
220:
174:, including those of the motor components involving the 7th and 9th-12th
1067:
1021:
672:
842:
Nemoto, H; Konno, S; Nomoto, N; Wakata, N; Kurihara, T (May 2005). "".
253:
genes. This gene is thought to be involved in transport of riboflavin.
249:
50:
if you can. Unsourced or poorly sourced material may be challenged and
914:
234:
171:
1080:
400:
344:
symptoms of Fazio-Londe disease and died before the age of two.
517:
Amyotrophic
Lateral Sclerosis and Other Motor Neuron Disorders
15:
915:"Infantile amyotrophic lateral sclerosis of the family type"
186:. Major features of BVVL include facial and neck weakness,
558:
Green, P; Wiseman, M; Crow, YJ; et al. (March 2010).
1015:"Bulbar Palsy, Progressive, with Sensorineural Deafness"
612:"Exome sequencing in Brown-Vialetto-van Laere syndrome"
307:
is able to identify genetic mutations underlying BVVL.
47:
1057:
1061:
239:
BVVL has autosomal recessive pattern of inheritance
133:
128:
692:
690:
510:
508:
506:
605:
603:
243:The disorder has been associated with various
46:Please review the contents of the article and
414:
412:
410:
408:
284:, in that those two conditions don't involve
8:
462:
460:
458:
170:BVVL is marked by a number of cranial nerve
1042:"Diseases affecting the spinal grey-matter"
1058:
125:
1005:at the U.S. National Library of Medicine
818:
808:
724:
714:
635:
583:
469:The Journal of Laryngology & Otology
386:
357:and a tendency to die earlier in life.
1130:Syndromes affecting the nervous system
392:
390:
919:Journal of Nervous and Mental Disease
7:
301:MMND, as MMND tends to be sporadic.
201:spinocerebellar and pyramidal tracts
699:"Brown-Vialetto-Van Laere syndrome"
397:Online Mendelian Inheritance in Man
62:"Brown–Vialetto–Van Laere syndrome"
616:American Journal of Human Genetics
564:American Journal of Human Genetics
341:infantile progressive bulbar palsy
14:
1003:Brown-Vialetto-Van Laere syndrome
797:Orphanet Journal of Rare Diseases
703:Orphanet Journal of Rare Diseases
622:(4): 567–9, author reply 569–70.
199:, as well as degeneration of the
144:Brown-Vialetto-Van-Laere syndrome
129:Brown–Vialetto–Van Laere syndrome
931:10.1097/00005053-189411000-00003
112:
20:
1013:Nair, Pratibha (18 July 2006).
697:Sathasivam, S (17 April 2008).
1046:Diseases of the nervous system
884:10.1016/j.braindev.2004.10.003
48:add the appropriate references
1:
1040:Wilson, John Eastman (1909).
433:10.1016/S0387-7604(02)00085-2
282:amyotrophic lateral sclerosis
276:from similar conditions like
1135:Syndromes affecting hearing
290:Madras motor neuron disease
33:reliable medical references
1156:
750:Journal of Child Neurology
628:10.1016/j.ajhg.2010.05.021
576:10.1016/j.ajhg.2010.02.006
286:sensorineural hearing loss
529:10.1080/14660820050515106
39:or relies too heavily on
1048:. Boericke & Runyon.
1007:Medical Subject Headings
762:10.1177/0883073816689517
481:10.1258/0022215054273179
274:differentially diagnosed
263:neurological examination
872:Brain & Development
661:Journal of Biochemistry
421:Brain & Development
1125:Neurological disorders
810:10.1186/1750-1172-7-83
240:
156:sensorineural deafness
150:), sometimes known as
716:10.1186/1750-1172-3-9
261:Diagnosis requires a
238:
225:autonomic dysfunction
298:Boltshauser syndrome
278:Fazio-Londe syndrome
217:retinitis pigmentosa
375:Fazio–Londe disease
247:in the SLC52A2 and
193:respiratory failure
184:upper motor neurons
180:spinal motor nerves
974:Revue neurologique
844:Rinsho Shinkeigaku
241:
166:Symptoms and signs
1112:
1111:
913:Brown CH (1894).
673:10.1093/jb/mvn181
294:Nathalie syndrome
213:cerebellar ataxia
141:
140:
123:Medical condition
121:
120:
97:
1147:
1059:
1049:
1036:
1034:
1032:
1026:
1019:
990:
989:
968:
962:
961:
949:
943:
942:
910:
904:
903:
866:
860:
859:
839:
833:
832:
822:
812:
788:
782:
781:
745:
739:
738:
728:
718:
694:
685:
684:
656:
650:
649:
639:
607:
598:
597:
587:
555:
549:
548:
512:
501:
500:
464:
453:
452:
416:
403:
394:
269:can be helpful.
152:Brown's syndrome
126:
116:
115:
107:
104:
98:
96:
55:
24:
23:
16:
1155:
1154:
1150:
1149:
1148:
1146:
1145:
1144:
1115:
1114:
1113:
1108:
1107:
1070:
1056:
1039:
1030:
1028:
1027:on 9 April 2017
1024:
1017:
1012:
999:
997:Further reading
994:
993:
970:
969:
965:
951:
950:
946:
912:
911:
907:
868:
867:
863:
841:
840:
836:
790:
789:
785:
747:
746:
742:
696:
695:
688:
658:
657:
653:
609:
608:
601:
557:
556:
552:
514:
513:
504:
466:
465:
456:
418:
417:
406:
395:
388:
383:
371:
363:
350:
329:
313:
305:Genetic testing
259:
233:
168:
124:
117:
113:
108:
102:
99:
56:
45:
41:primary sources
25:
21:
12:
11:
5:
1153:
1151:
1143:
1142:
1140:Rare syndromes
1137:
1132:
1127:
1117:
1116:
1110:
1109:
1106:
1105:
1094:
1083:
1071:
1066:
1065:
1063:
1062:Classification
1055:
1054:External links
1052:
1051:
1050:
1037:
1010:
998:
995:
992:
991:
963:
944:
925:(2): 707–716.
905:
861:
834:
783:
756:(6): 528–532.
740:
686:
667:(4): 437–443.
651:
599:
550:
523:(4): 277–281.
502:
454:
427:(7): 732–735.
404:
385:
384:
382:
379:
378:
377:
370:
367:
362:
359:
349:
346:
328:
325:
312:
309:
288:, while BVVL,
258:
255:
232:
229:
197:Purkinje cells
176:cranial nerves
167:
164:
139:
138:
135:
131:
130:
122:
119:
118:
111:
109:
28:
26:
19:
13:
10:
9:
6:
4:
3:
2:
1152:
1141:
1138:
1136:
1133:
1131:
1128:
1126:
1123:
1122:
1120:
1104:
1100:
1099:
1095:
1093:
1089:
1088:
1084:
1082:
1078:
1077:
1073:
1072:
1069:
1064:
1060:
1053:
1047:
1043:
1038:
1023:
1016:
1011:
1008:
1004:
1001:
1000:
996:
987:
983:
980:(2): 289–95.
979:
975:
967:
964:
959:
955:
948:
945:
940:
936:
932:
928:
924:
920:
916:
909:
906:
901:
897:
893:
889:
885:
881:
877:
873:
865:
862:
857:
853:
850:(5): 357–61.
849:
845:
838:
835:
830:
826:
821:
816:
811:
806:
802:
798:
794:
787:
784:
779:
775:
771:
767:
763:
759:
755:
751:
744:
741:
736:
732:
727:
722:
717:
712:
708:
704:
700:
693:
691:
687:
682:
678:
674:
670:
666:
662:
655:
652:
647:
643:
638:
633:
629:
625:
621:
617:
613:
606:
604:
600:
595:
591:
586:
581:
577:
573:
569:
565:
561:
554:
551:
546:
542:
538:
534:
530:
526:
522:
518:
511:
509:
507:
503:
498:
494:
490:
486:
482:
478:
474:
470:
463:
461:
459:
455:
450:
446:
442:
438:
434:
430:
426:
422:
415:
413:
411:
409:
405:
402:
398:
393:
391:
387:
380:
376:
373:
372:
368:
366:
360:
358:
356:
347:
345:
342:
337:
333:
326:
324:
322:
316:
310:
308:
306:
302:
299:
295:
291:
287:
283:
279:
275:
270:
268:
264:
256:
254:
252:
251:
246:
237:
230:
228:
226:
222:
218:
214:
210:
209:optic atrophy
204:
202:
198:
194:
189:
188:fasciculation
185:
181:
177:
173:
165:
163:
159:
157:
153:
149:
145:
136:
132:
127:
110:
106:
103:December 2021
95:
92:
88:
85:
81:
78:
74:
71:
67:
64: –
63:
59:
58:Find sources:
53:
49:
43:
42:
38:
34:
29:This article
27:
18:
17:
1096:
1085:
1074:
1045:
1029:. Retrieved
1022:the original
977:
973:
966:
957:
953:
947:
922:
918:
908:
878:(6): 443–6.
875:
871:
864:
847:
843:
837:
800:
796:
786:
753:
749:
743:
706:
702:
664:
660:
654:
619:
615:
570:(3): 485–9.
567:
563:
553:
520:
516:
475:(6): 470–2.
472:
468:
424:
420:
364:
351:
348:Epidemiology
338:
334:
330:
321:CO₂ narcosis
317:
314:
303:
272:BVVL can be
271:
267:neuroimaging
260:
248:
242:
205:
169:
160:
151:
147:
143:
142:
100:
90:
83:
76:
69:
57:
37:verification
30:
134:Other names
31:needs more
1119:Categories
1098:DiseasesDB
381:References
73:newspapers
939:143353104
803:(1): 83.
327:Prognosis
311:Treatment
257:Diagnosis
245:mutations
900:32223440
892:16122634
856:15960172
829:23107375
778:31769793
770:28116953
735:18416855
681:19122205
646:20920669
594:20206331
545:42001695
537:11465021
497:28865108
489:15992475
441:12427524
399:(OMIM):
369:See also
355:deafness
231:Genetics
221:epilepsy
1092:C537111
1031:9 April
986:5969547
960:: 1–24.
820:3517535
726:2346457
637:2948797
585:2833371
449:7690110
361:History
250:SLC52A3
172:palsies
87:scholar
52:removed
1081:211530
1009:(MeSH)
984:
937:
898:
890:
854:
827:
817:
776:
768:
733:
723:
679:
644:
634:
592:
582:
543:
535:
495:
487:
447:
439:
401:211530
296:, and
182:, and
137:BVVLS1
89:
82:
75:
68:
60:
1103:32666
1025:(PDF)
1018:(PDF)
935:S2CID
896:S2CID
774:S2CID
709:: 9.
541:S2CID
493:S2CID
445:S2CID
94:JSTOR
80:books
1087:MeSH
1076:OMIM
1033:2017
982:PMID
888:PMID
852:PMID
825:PMID
766:PMID
731:PMID
677:PMID
642:PMID
590:PMID
533:PMID
485:PMID
437:PMID
280:and
265:and
223:and
148:BVVL
66:news
35:for
978:115
927:doi
880:doi
815:PMC
805:doi
758:doi
721:PMC
711:doi
669:doi
665:145
632:PMC
624:doi
580:PMC
572:doi
525:doi
477:doi
473:119
429:doi
1121::
1101::
1090::
1079::
1044:.
976:.
958:40
956:.
933:.
923:21
921:.
917:.
894:.
886:.
876:27
874:.
848:45
846:.
823:.
813:.
799:.
795:.
772:.
764:.
754:32
752:.
729:.
719:.
705:.
701:.
689:^
675:.
663:.
640:.
630:.
620:87
618:.
614:.
602:^
588:.
578:.
568:86
566:.
562:.
539:.
531:.
519:.
505:^
491:.
483:.
471:.
457:^
443:.
435:.
425:24
423:.
407:^
389:^
292:,
227:.
219:,
215:,
211:,
178:,
158:.
54:.
1068:D
1035:.
988:.
941:.
929::
902:.
882::
858:.
831:.
807::
801:7
780:.
760::
737:.
713::
707:3
683:.
671::
648:.
626::
596:.
574::
547:.
527::
521:1
499:.
479::
451:.
431::
146:(
105:)
101:(
91:·
84:·
77:·
70:·
44:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
