[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 …
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 …
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 …
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 …
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
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the
brain, causing progressive movement disorders, psychiatric symptoms, and cognitive …
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 …
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 …
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 …
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 …
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
Purpose Nigrosome imaging using susceptibility-weighted imaging (SWI) and dopamine
transporter imaging using 123I-2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) …
transporter imaging using 123I-2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) …