UNIVERSI
TÄ
TS-
BIBLIOTHEK
P
ADERBORN
Anmelden
Menü
Menü
Start
Hilfe
Blog
Weitere Dienste
Neuerwerbungslisten
Fachsystematik Bücher
Erwerbungsvorschlag
Bestellung aus dem Magazin
Fernleihe
Einstellungen
Sprache
Deutsch
Deutsch
Englisch
Farbschema
Hell
Dunkel
Automatisch
Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist
gegebenenfalls
nur via VPN oder Shibboleth (DFN-AAI) möglich.
mehr Informationen...
Universitätsbibliothek
Katalog
Suche
Details
Zur Ergebnisliste
Ergebnis 11 von 38
Datensatz exportieren als...
BibTeX
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Movement disorders, 2015-05, Vol.30 (6), p.828-833
Erro, Roberto
Hersheson, Joshua
Ganos, Christos
Mencacci, Niccoló E.
Stamelou, Maria
Batla, Amit
Thust, Stefanie Catherine
Bras, Jose M.
Guerreiro, Rita J.
Hardy, John
Quinn, Niall P.
Houlden, Henry
Bhatia, Kailash P.
2015
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Erro, Roberto
Hersheson, Joshua
Ganos, Christos
Mencacci, Niccoló E.
Stamelou, Maria
Batla, Amit
Thust, Stefanie Catherine
Bras, Jose M.
Guerreiro, Rita J.
Hardy, John
Quinn, Niall P.
Houlden, Henry
Bhatia, Kailash P.
Titel
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Ist Teil von
Movement disorders, 2015-05, Vol.30 (6), p.828-833
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2015
Quelle
Wiley Online Library All Journals
Beschreibungen/Notizen
Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of the basal ganglia and cerebellum (H‐ABC) syndrome, a rare neurodegenerative disorder of infancy and childhood. TUBB4A mutations also have been described as causative of DYT4 (“hereditary whispering dysphonia”). However, in DYT4, brain imaging has been reported to be normal and, therefore, H‐ABC syndrome and DYT4 have been construed to be different disorders, despite some phenotypic overlap. Hence, the question of whether these disorders reflect variable expressivity or pleiotropy of TUBB4A mutations has been raised. We report four unrelated patients with imaging findings either partially or totally consistent with H‐ABC syndrome, who were found to have TUBB4A mutations. All four subjects had a relatively homogenous phenotype characterized by severe generalized dystonia with superimposed pyramidal and cerebellar signs, and also bulbar involvement leading to complete aphonia and swallowing difficulties, even though one of the cases had an intermediate phenotype between H‐ABC syndrome and DYT4. Genetic analysis of the TUBB4A gene showed one previously described and two novel mutations (c.941C>T; p.Ala314Val and c.900G>T; p.Met300Ile) in the exon 4 of the gene. While expanding the genetic spectrum of H‐ABC syndrome, we confirm its radiological heterogeneity and demonstrate that phenotypic overlap with DYT4. Moreover, reappraisal of previously reported cases would also argue against pleiotropy of TUBB4A mutations. We therefore suggest that H‐ABC and DYT4 belong to a continuous phenotypic spectrum associated with TUBB4A mutations. © 2014 International Parkinson and Movement Disorder Society
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.26129
Titel-ID: cdi_proquest_miscellaneous_1776651347
Format
–
Schlagworte
Adult
,
Basal Ganglia - pathology
,
beta-tubulin
,
Cerebellum - pathology
,
Dystonia Musculorum Deformans - genetics
,
Dystonia Musculorum Deformans - pathology
,
Dystonia Musculorum Deformans - physiopathology
,
DYT4
,
Exons
,
Female
,
Genetic Pleiotropy
,
Heterozygote
,
Humans
,
hypomyelination with atrophy of basal ganglia and cerebellum
,
Leukoencephalopathies - genetics
,
Leukoencephalopathies - pathology
,
Leukoencephalopathies - physiopathology
,
Male
,
Movement disorders
,
Mutation
,
mutations
,
Phenotype
,
TUBB4A
,
Tubulin - genetics
,
Voice Disorders - congenital
,
Voice Disorders - genetics
,
Voice Disorders - pathology
,
Voice Disorders - physiopathology
,
whispering dystonia
Weiterführende Literatur
Empfehlungen zum selben Thema automatisch vorgeschlagen von
bX