[HTML][HTML] Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features

G Donzuso, G Mostile, A Nicoletti, M Zappia - Neurological sciences, 2019 - Springer
Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients
undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with …

[HTML][HTML] Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

J Wallenius, E Kafantari, E Jhaveri, S Gorcenco… - The American Journal of …, 2024 - cell.com
Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific
combined phenotype that we described in two Swedish kindreds in 2014; its genetic cause …

[HTML][HTML] Decoding neurodegeneration: a comprehensive review of molecular mechanisms, genetic influences, and therapeutic innovations

V Voicu, CP Tataru, C Toader… - International Journal of …, 2023 - mdpi.com
Neurodegenerative disorders often acquire due to genetic predispositions and genomic
alterations after exposure to multiple risk factors. The most commonly found pathologies are …

[HTML][HTML] Bi-allelic JAM2 variants lead to early-onset recessive primary familial brain calcification

LV Schottlaender, R Abeti, Z Jaunmuktane… - The American Journal of …, 2020 - cell.com
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder
characterized by a combination of neurological, psychiatric, and cognitive decline …

[HTML][HTML] Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

V Chelban, H Aksnes, R Maroofian… - Nature …, 2024 - nature.com
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the
brain, causing progressive movement disorders, psychiatric symptoms, and cognitive …

[HTML][HTML] Primary familial brain calcification

EM Ramos, J Oliveira, MJ Sobrido, G Coppola - 2017 - europepmc.org
Primary familial brain calcification (PFBC) is a neurodegenerative disorder with
characteristic calcium deposits in the basal ganglia and other brain areas visualized on …

[HTML][HTML] Fahr syndrome

F Amisha, S Munakomi - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Objectives: Identify the etiology and epidemiology of Fahr disease. Review appropriate
evaluation of Fahr disease. Describe the management options available for Fahr disease …

The spectrum of involuntary vocalizations in humans: A video atlas

T Mainka, B Balint, F Gövert, L Kurvits… - Movement …, 2019 - Wiley Online Library
In clinical practice, involuntary vocalizing behaviors are typically associated with Tourette
syndrome and other tic disorders. However, they may also be encountered throughout the …

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification

XX Guo, XH Zou, C Wang, XP Yao, HZ Su… - Human …, 2019 - Wiley Online Library
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder with four
causative genes (SLC20A2, PDGFRB, PDGFB, and XPR1) that have been identified. Here …

[HTML][HTML] Deep learning regressor model based on nigrosome MRI in Parkinson syndrome effectively predicts striatal dopamine transporter-SPECT uptake

YJ Bae, BS Choi, JM Kim, WA Ai, I Yun, YS Song… - Neuroradiology, 2023 - Springer
Purpose Nigrosome imaging using susceptibility-weighted imaging (SWI) and dopamine
transporter imaging using 123I-2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) …