Results 31 to 40 of about 1,850 (182)

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]

Clin Case Rep
ABSTRACT We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early‐onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare ...
Ahmadi R, Bavarsad MJ, Feizollah Jani M, Azizimalamiri R.   +3 more
europepmc   +2 more sources

Functional impairments in NBIA patients: Preliminary results. [PDF]

Intractable Rare Dis Res
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group (genetically and phenotypically) of genetically determined disorders. Up to date there is no cure for this disease, so the applied treatments focus on symptoms control and palliative care.
Syczewska M, Stęplowska A, Szczerbik E, Kalinowska M, Cwyl M.   +4 more
europepmc   +3 more sources

A Brief History of NBIA Gene Discovery

Journal of Movement Disorders, 2023
Neurodegenerative disorders associated with high basal ganglia iron are known by the overarching term of ‘NBIA’ disorders or ‘neurodegeneration with brain iron accumulation’. Discovery of their individual genetic bases was greatly enabled by the collection of DNA and clinical data in just a few centers.
openaire   +2 more sources

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

Orphanet Journal of Rare Diseases, 2023
Background Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A.
Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell   +15 more
doaj   +1 more source

Down-regulation of coasy, the gene associated with NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish [PDF]

, 2016
Neurodegeneration with brain iron accumulation (NBIA) disorders are a set of clinically analogous neurological diseases characterized by neuropathology of the basal gaglia with iron deposition (Levi and Finazzi, 2015).
GIANONCELLI, Alessandra, Khatri, D, Monti, E, MONTI, Eugenio, ZIZIOLI, Daniela, Facchinello, Nicola, Memo, M, Finazzi, D., VEZZOLI, SARA, BORSANI, Giuseppe, FINAZZI, Dario, Borsani, G, Gianoncelli, A, MEMO, Maurizio, Vezzoli, S, TISO, Natascia, Khatri, Deepak   +16 more
core   +1 more source

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans [PDF]

Journal of Movement Disorders, 2016
Objective Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia.
Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho, Mee Young Park, Yun Joong Kim, Young H. Sohn, Beom Seok Jeon, Myung Sik Lee   +21 more
doaj   +1 more source

Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation

Frontiers in Neurology, 2020
Most neurodegeneration with brain iron accumulation (NBIA) disorders can be distinguished by identifying characteristic changes on magnetic resonance imaging (MRI) in combination with clinical findings.
Jae-Hyeok Lee, Ji Young Yun, Allison Gregory, Penelope Hogarth, Susan J. Hayflick   +4 more
doaj   +1 more source

Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review. [PDF]

Eur J Neurol
To improve the quality of available evidence on the efficacy of DBS for treating monogenic dystonia, we conducted a systematic review in accordance with PRISMA guidelines. Based on the collected evidence, we formulated recommendations for applying DBS in monogenic dystonia.
Indelicato E, Carmona-Hidalgo B, Quintero J, Escobar JDO, Koy A, Salamon A, Tacik P, Muñoz-Delgado L, Giannini G, Reich M, Albanese A, Bäumer T, Grandas F, Jech R, Leonardos A, Mir P, Pérez-Dueñas B, Perez-Sanchez JR, Valldeoriola F, Zanni G, Vidailhet M, Rodríguez-López R, Blasco-Amaro JA, Reinhard C, Boesch S, European Reference Network for Rare Neurological Diseases (ERN‐RND).   +25 more
europepmc   +2 more sources

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. [PDF]

PLoS ONE, 2010
Mutations in the PLA2G6 gene have been identified in autosomal recessive neurodegenerative diseases classified as infantile neuroaxonal dystrophy (INAD), neurodegeneration with brain iron accumulation (NBIA), and dystonia-parkinsonism.
Laura A Engel, Zheng Jing, Daniel E O'Brien, Mengyang Sun, Paul T Kotzbauer   +4 more
doaj   +1 more source

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

Arquivos de Neuro-Psiquiatria, 2016
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia.
Rubens Paulo Araújo Salomão, José Luiz Pedroso, Maria Thereza Drumond Gama, Lívia Almeida Dutra, Ricardo Horta Maciel, Clécio Godeiro-Junior, Hsin Fen Chien, Hélio A. G. Teive, Francisco Cardoso, Orlando G. P. Barsottini   +9 more
doaj   +1 more source