E-viri
Recenzirano
Odprti dostop
-
Kaiyrzhanov, Rauan; Ortigoza‐Escobar, Juan Darío; Stringer, Brett W.; Ganieva, Manizha; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Macaya, Alfons; Laner, Andreas; Onbool, Enas; Al‐Shammari, Randa; Al‐Owain, Mohammed; Deconinck, Nicolas; Vilain, Catheline; Dontaine, Pauline; Self, Eleanor; Akram, Rabia; Hussain, Ghulam; Baig, Shahid Mahmood; Iqbal, Javed; Salpietro, Vincenzo; Neshatdoust, Maedeh; Kasiri, Mahboubeh; Yesil, Gozde; Uygur, Turkan; Pysden, Karen; Berry, Ian R.; Alves, Cesar Augusto; Giacomotto, Jean; Houlden, Henry; Maroofian, Reza
Movement disorders, June 2024, Letnik: 39, Številka: 6Journal Article
Background Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ‐3). Objectives We aim to comprehensively investigate CA8‐related disorders (CA8‐RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular observations in a cohort of newly identified patients. Methods We analyzed the phenotype of 27 affected individuals from 14 families with biallelic CA8 variants (including data from 15 newly identified patients from eight families), ages 4 to 35 years. Clinical, genetic, and radiological assessments were performed, and zebrafish models with ca8 knockout were used for functional analysis. Results Patients exhibited varying degrees of neurodevelopmental disorders (NDD), along with predominantly progressive cerebellar ataxia and pyramidal signs and variable bradykinesia, dystonia, and sensory impairment. Quadrupedal gait was present in only 10 of 27 patients. Progressive selective cerebellar atrophy, predominantly affecting the superior vermis, was a key diagnostic finding in all patients. Seven novel homozygous CA8 variants were identified. Zebrafish models demonstrated impaired early neurodevelopment and motor behavior on ca8 knockout. Conclusion Our comprehensive analysis of phenotypic features indicates that CA8‐RD exhibits a wide range of clinical manifestations, setting it apart from other subtypes within the category of CAMRQ. CA8‐RD is characterized by cerebellar atrophy and should be recognized as part of the autosomal‐recessive cerebellar ataxias associated with NDD. Notably, the presence of progressive superior vermis atrophy serves as a valuable diagnostic indicator. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Avtor
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.