Cargando…

Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review

BACKGROUND: Biallelic variants in HPCA were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of HPCA‐related disorder has expanded up to including a complex syndrome encompassing neurodevelopmental delay, generalized dystonia with bulbar involvement, and infanti...

Descripción completa

Detalles Bibliográficos
Autores principales:	Magrinelli, Francesca, Bhatia, Kailash P., Beiraghi Toosi, Mehran, Arab, Fatemeh, Karimiani, Ehsan Ghayoor, Sedighzadeh, Sahar, Ansari, Behnaz, Neshatdoust, Maedeh, Rocca, Clarissa, Houlden, Henry, Maroofian, Reza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Case Series with Literature Reviews
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9847280/ https://www.ncbi.nlm.nih.gov/pubmed/36698997 http://dx.doi.org/10.1002/mdc3.13529

Ejemplares similares

Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia
por: Charlesworth, Gavin, et al.
Publicado: (2015)

Choreo-graphics : a comparison of dance notation systems from the fifteenth century to the present /
por: Guest, Ann Hutchinson
Publicado: (1989)

Para-choreo-ballism due to pinealoma in an elderly lady
por: Singh, Amit Shankar, et al.
Publicado: (2023)

The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients
por: AHMADNIA, Negin, et al.
Publicado: (2021)

Facial cellulitis revealing choreo-acanthocytosis: a case report
por: Samia, Younes, et al.
Publicado: (2014)

Choreo-ballistic movements heralding COVID-19 induced diabetic ketoacidosis
por: Ghosh, Ritwik, et al.
Publicado: (2021)

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
por: Nagy, Sara, et al.
Publicado: (2022)

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
por: Whittle, Ella F., et al.
Publicado: (2023)

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
por: del Caño-Ochoa, Francisco, et al.
Publicado: (2020)

Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing
por: Mezreani, Jean, et al.
Publicado: (2022)

Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant
por: Lance, Eboni I, et al.
Publicado: (2018)

Extensive cerebral Sinovenous Thrombosis in a 5 Year Old Girl, Following Mild Dehydration. (Case Report and Review of Literature)
por: Ashrafzadeh, Farah, et al.
Publicado: (2013)

Epstein-Barr Virus Encephalitis: A Case Report
por: HASHEMIAN, Somayh, et al.
Publicado: (2015)

Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis
por: ESLAMIYEH, Hossein, et al.
Publicado: (2015)

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities
por: Kaiyrzhanov, Rauan, et al.
Publicado: (2021)

Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy
por: Arab, Fatemeh, et al.
Publicado: (2023)

The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report
por: SABERMOGHADAM, Reihane, et al.
Publicado: (2023)

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ()
por: Burns, Siobhan O., et al.
Publicado: (2014)

The net effect: spanning diseases, crossing borders—highlights from the fourth triennial APCA conference and annual HPCA conference for palliative care
por: Downing, J, et al.
Publicado: (2013)

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia
por: Masuho, Ikuo, et al.
Publicado: (2016)

Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report
por: ASHRAFZADEH, Farah, et al.
Publicado: (2013)

High performance computing and applications: third international conference, HPCA 2015, Shanghai, China, July 26-30, 2015, revised selected papers
por: Xie, Jiang, et al.
Publicado: (2016)

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation
por: Zaki, Maha, et al.
Publicado: (2017)

A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke
por: Greisenegger, Elli Katharine, et al.
Publicado: (2020)

Psychological Signs as the Only Presentation of Wilson’s Disease in an 11-Year-Old Boy
por: BEIRAGHI TOOSI, Mehran, et al.
Publicado: (2018)

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia
por: Monfrini, Edoardo, et al.
Publicado: (2021)

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
por: Rad, Aboulfazl, et al.
Publicado: (2022)

Angelman Syndrome: A Case Report
por: Ashrafzadeh, Farah, et al.
Publicado: (2016)

Joubert Syndrome in Three Children in A Family: A Case Series
por: Akhondian, Javad, et al.
Publicado: (2013)

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC
por: Rubio-Cabezas, Oscar, et al.
Publicado: (2009)

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
por: Çağlayan, Ahmet Okay, et al.
Publicado: (2016)

Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome
por: Bodoor, Khaldon, et al.
Publicado: (2016)

Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation
por: Cai, Meiying, et al.
Publicado: (2022)

Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome
por: Heidari, Abolfazl, et al.
Publicado: (2023)

An international survey of patients with cervical dystonia
por: Comella, Cynthia, et al.
Publicado: (2015)

AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia
por: Fevga, Christina, et al.
Publicado: (2022)

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report
por: Lekszas, Caroline, et al.
Publicado: (2019)

A case report of Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI) as an atypical presentation of PRES in children: A case report and review of the literature
por: AKHONDIAN, Javad, et al.
Publicado: (2022)

Comparison of new biomarkers in the diagnosis of perinatal asphyxia
por: BOSKABADI, Hassan, et al.
Publicado: (2023)

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
por: Musante, Luciana, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_q9bfvhqpg4o3ucih8r6vdsdks8