Results 41 to 50 of about 630 (120)

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

EBioMedicine, 2022
Summary: Background: Neurodegeneration with brain iron accumulation (NBIA) are a group of clinically and genetically heterogeneous diseases characterized by iron overload in basal ganglia and progressive neurodegeneration.
Hana Kolarova, Jing Tan, Tim M. Strom, Thomas Meitinger, Matias Wagner, Thomas Klopstock   +5 more
doaj   +1 more source

DataSheet1_Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration.ZIP

, 2022
Background: Mitochondrial membrane protein–associated neurodegeneration (MPAN) mostly arises as an autosomal recessive disease and is caused by variants in the chromosome 19 open reading frame 12 (C19orf12) gene.
Yue Yang (52715), Jiuxiang Wang (12125238), Wenjie Hao (10650779), Shijie Zhang (119400), Taohua Wei (10650776), Ting Cheng (1692172), Wei Dong (6479), Nannan Qian (10650782), Wenming Yang (4017086)   +8 more
core   +1 more source

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

, 2021
Variants of the C19ORF12-gene have been described in patients with spastic paraplegia type 43 and in patients with mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of neurodegeneration associated with brain iron accumulation (
de Vries, R. J., Hellebrekers, D. M. E., Hellebrekers, D. M. E. I., Jaeger, B., de Visser, M., Bleeker, F. E., van Maarle, M. C., Smeets, H. J. M., Verhamme, C., Reneman, L.   +9 more
core   +1 more source

Brain iron and metabolic abnormalities in C19orf12 mutation carriers: a 7.0 tesla MRI study in mitochondrial membrane protein–associated neurodegeneration [PDF]

, 2020
Background: Mitochondrial membrane protein-associated neurodegeneration is an autosomal-recessive disorder caused by C19orf12 mutations and characterized by iron deposits in the basal ganglia.
Els, Antje, Vince I. Madai, Ittermann, Bernd, Wuerfel, Jens, Acosta-Cabronero, Julio, Marcus Deschauer, Tomasz Kmiec, Till Huelnhagen, Thomas Klopstock, Dusek, Petr, Skowronska, Marta, Huelnhagen, Till, Simon Daniel Robinson, Mekle, Ralf, Paul, Friedemann, Antje Els, Deschauer, Marcus, Madai, Vince I., Thoralf Niendorf, Ralf Mekle, Schubert, Florian, Schneider, Susanne A., Julio Acosta‐Cabronero, Petr Dusek, Kmiec, Tomasz, Florian Schubert, Niendorf, Thoralf, Friedemann Paul, Acosta‐Cabronero, Julio, Schottmann, Gudrun, Klopstock, Thomas, Jens Wuerfel, Robinson, Simon Daniel, Susanne A. Schneider, Bernd Ittermann, Marta Skowronska, Gudrun Schottmann   +36 more
core   +3 more sources

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

Antioxidants, 2020
The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia.
Isabel Hinarejos, Candela Machuca, Paula Sancho, Carmen Espinós   +3 more
doaj   +1 more source

C19orf12 mutation leads to a pallido-pyramidal syndrome.

, 2014
Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN
Alzahrani, J., Houlden, H., Elmalik, S.A., Salih, M.A., Khan, A.O., Mooney, C., Kabiraj, M.M., Paudel, R., Azzedine, H., Kruer, M.C., Alkuraya, F.   +10 more
core   +1 more source

Alignment of the fly C19orf12 orthologs (CG3740, CG11671) with human C19orf12 protein.

, 2014
Proteins have been aligned using Clustal 2.1 multiple alignment tool. Stars (*) indicate identities and dots indicate a higher (:) and a lower (.) degree of similarity. The two D.
Ody C. M. Sibon (142160), Holger Prokisch (26590), Cristina Organisti (526133), Matteo Gorza (526132), Thomas Meitinger (26605), Arcangela Iuso (526131), Katharina Heim (112697)   +6 more
core   +1 more source

Update on Genetic Chorea

European Journal of Neurology, Volume 32, Issue 10, October 2025.
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Jesús Pérez‐Pérez, Gonzalo Olmedo‐Saura, Saül Martínez‐Horta, Sara Bernal, Javier Pagonabarraga, Jaime Kulisevsky   +5 more
wiley   +1 more source

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

, 2012
Neurodegeneration with brain iron accumulation (NBIA) defines a wide spectrum of clinical entities characterized by iron accumulation in specific regions of the brain, predominantly in the basal ganglia.
Venco P., Dusi S., Zibordi F., Siegel B., Garavaglia B., Chiapparini L., Tiranti V., Panteghini C., Brunetti D., Zorzi G., Reale C., Bertini E., Nardocci N., SIMONATI, Alessandro   +13 more
core   +2 more sources

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, Volume 12, Issue 9, Page 1894-1900, September 2025.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source