scholarly journals Cooccurrence of Multiple Sclerosis and Idiopathic Basal Ganglia Calcification

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
M. Abedini ◽  
N. Karimi ◽  
N. Tabrizi
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Basal Ganglia ◽  
Gray Matter ◽  
Neurodegenerative Disorder ◽  
Rare Event ◽  
Basal Ganglia Calcification ◽  
Brain Calcification ◽  
Idiopathic Basal Ganglia Calcification

Multiple sclerosis (MS) is a chronic inflammatory demyelinating and neurodegenerative disease of central nervous system that affects both white and gray matter. Idiopathic calcification of the basal ganglia is a rare neurodegenerative disorder of unknown cause that is characterized by sporadic or familial brain calcification. Concurrence of multiple sclerosis (MS) and idiopathic basal ganglia calcification (Fahr’s disease) is very rare event. In this study, we describe a cooccurrence of idiopathic basal ganglia calcification with multiple sclerosis. The association between this disease and MS is unclear and also maybe probably coincidental.

scholarly journals Comparison of Thalamus and Basal Ganglia Signs Between Multiple Sclerosis and Primary Angiitis of the Central Nervous System: An Exploratory Study

2021 ◽  
Vol 12 ◽  
Author(s):  
Ying Chen ◽  
Rui Li ◽  
Aimin Wu ◽  
Wei Qiu ◽  
Xueqiang Hu ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Basal Ganglia ◽  
Gray Matter ◽  
Small Vessels ◽  
Relapsing Remitting ◽  
Primary Angiitis ◽  
The Central Nervous System ◽  
Deep Gray Matter

Based on the symptoms, especially those affecting small vessels, it is difficult to distinguish multiple sclerosis (MS) from primary angiitis of the central nervous system (PACNS). Magnetic resonance imaging (MRI) helps understand the characteristics of deep gray matter lesions (DGML) in MS and PACNS. We aimed to compare the MRI characteristics of thalamus and basal ganglia lesions between relapsing-remitting MS and PACNS. In our study, 49 relapsing-remitting MS patients and 16 PACNS with MRI-confirmed thalamus or basal ganglia lesions were enrolled. Among the DGMLs in basal ganglia, putamen had significantly higher (P = 0.037) involvement in PACNS than in MS. More importantly, larger lesion sizes in thalamus helps to distinguish PACNS (12.4 ± 4.3 mm) from MS (7.9 ± 3.7 mm) (P = 0.006). But using lesions in basal ganglia, researchers were unable to differentiate the two disorders. Presently, our study shows that MRI performances of deep gray matter differ between MS and PACNS.

scholarly journals Pediatric Idiopathic Basal Ganglia Calcification and Spherocytosis With Chromosome 8p11 Deletion

2020 ◽  
Vol 79 (2) ◽  
pp. 238-241
Author(s):  
Meaghan Morris ◽  
Regina Kwon ◽  
Liam Chen
Keyword(s):  
Basal Ganglia ◽  
Neurodegenerative Disorder ◽  
Psychiatric Symptoms ◽  
Focal Cortical Dysplasia ◽  
Genetic Studies ◽  
Genetic Syndrome ◽  
Basal Ganglia Calcification ◽  
Idiopathic Basal Ganglia Calcification ◽  
Fahr Disease ◽  
Middle Aged Adults

Abstract Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is a rare neurodegenerative disorder characterized by the accumulation of extensive parenchymal and vascular calcifications in the basal ganglia, with variable calcifications elsewhere in the brain. Typically, IBGC presents with neurologic and psychiatric symptoms in middle-aged adults. Recent genetic studies have identified alterations in 4 genes causing IBGC, including alterations in SLC20A2 on chromosome 8p11.2. Currently, there are no clinical descriptions of patients with IBGC occurring within the context of a complex genetic syndrome. Here, we present a case of pediatric 8p11 deletion with IBGC, hereditary spherocytosis, vitreoretinopathy, and focal cortical dysplasia. We review multiple cases of IBGC with pediatric onset due to SLC20A2 deletion in the literature, and raise the consideration of IBGC in the evaluation of pediatric patients with 8p11.2 deletion syndromes.

scholarly journals Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Cem Sahin ◽  
Mustafa Levent ◽  
Gulhan Akbaba ◽  
Bilge Kara ◽  
Emine Nese Yeniceri ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Impulse Control ◽  
Cerebellar Nuclei ◽  
Impulse Control Disorder ◽  
Metabolic Disturbances ◽  
Basal Ganglia Calcification ◽  
Brain Calcification ◽  
Idiopathic Basal Ganglia Calcification ◽  
Anatomic Localization ◽  
Current Report

Primary familial brain calcification (PFBC), also referred to as Idiopathic Basal Ganglia Calcification (IBGC) or “Fahr’s disease,” is a clinical condition characterized by symmetric and bilateral calcification of globus pallidus and also basal ganglions, cerebellar nuclei, and other deep cortical structures. It could be accompanied by parathyroid disorder and other metabolic disturbances. The clinical features are dysfunction of the calcified anatomic localization. IBGC most commonly presents with mental damage, convulsion, parkinson-like clinical picture, and neuropsychiatric behavior disorders; however, presentation with impulse control disorder is not a frequent presentation. In the current report, a 43-year-old male patient who has been admitted to psychiatry policlinic with the complaints of aggressive behavior episodes and who has been diagnosed with impulse control disorder and IBGC was evaluated in the light of the literature.

Multiple Sclerosis: White Matter versus Gray Matter Involvement (The Cause of Disability in MS)

2017 ◽  
Author(s):  
Massimo Filippi ◽  
Maria A. Rocca
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
White Matter ◽  
Gray Matter ◽  
Resonance Imaging ◽  
Factors Associated ◽  
The Central Nervous System ◽  
Magnetic Resonance Imaging Mri

The classic view of multiple sclerosis (MS) as a chronic, inflammatory-demyelinating condition affecting solely the white matter (WM) of the central nervous system (CNS) has been challenged by the demonstration, from pathologic and magnetic resonance imaging (MRI) studies, of an extensive and diffuse involvement of the gray matter (GM). This observation has driven the application of modern MR technology and methods of analysis to quantify the extent and distribution of damage to the different compartments of the CNS, with the ultimate goal of improving our understanding of the factors associated with the accumulation of clinical disability and cognitive impairment in these patients.

scholarly journals Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Kazuya Nishii ◽  
Ritsuko Shimogawa ◽  
Hisaka Kurita ◽  
Masatoshi Inden ◽  
Michio Kobayashi ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Reference Level ◽  
Transport Function ◽  
Transport Activity ◽  
Wild Type ◽  
Causative Gene ◽  
Basal Ganglia Calcification ◽  
Pi Transport ◽  
Brain Calcification ◽  
Idiopathic Basal Ganglia Calcification

AbstractIdiopathic basal ganglia calcification (IBGC) is a rare intractable disease characterized by abnormal mineral deposits, including mostly calcium in the basal ganglia, thalamus, and cerebellum. SLC20A2 is encoding the phosphate transporter PiT-2 and was identified in 2012 as the causative gene of familial IBGC. In this study, we investigated functionally two novel SLC20A2 variants (c.680C > T, c.1487G > A) and two SLC20A2 variants (c.82G > A, c.358G > C) previously reported from patients with IBGC. We evaluated the function of variant PiT-2 using stable cell lines. While inorganic phosphate (Pi) transport activity was abolished in the cells with c.82G > A, c.358G > C, and c.1487G > A variants, activity was maintained at 27.8% of the reference level in cells with the c.680C > T variant. Surprisingly, the c.680C > T variant had been discovered by chance in healthy members of an IBGC family, suggesting that partial preservation of Pi transport activity may avoid the onset of IBGC. In addition, we confirmed that PiT-2 variants could be translocated into the cell membrane to the same extent as PiT-2 wild type. In conclusion, we investigated the PiT-2 dysfunction of four SLC20A2 variants and suggested that a partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of IBGC.

Tissue Factor Localization in Non-Human Primate Cerebral Tissue

1992 ◽  
Vol 68 (06) ◽  
pp. 642-647 ◽  
Author(s):  
Gregory J del Zoppo ◽  
Jian-Qing Yu ◽  
Brian R Copeland ◽  
Winston S Thomas ◽  
Jacob Schneiderman ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
White Matter ◽  
Basal Ganglia ◽  
Tissue Factor ◽  
Gray Matter ◽  
Sandwich Elisa ◽  
Procoagulant Activity ◽  
Cortical Gray Matter ◽  
Human Primate

SummaryTissue factor (TF), the principal procoagulant of human brain, resides in specific regions of the non-human primate central nervous system. Immunohistochemical studies employing murine anti-human TF monoclonal antibodies (MoAbs) detected TF antigen in the cortex, basal ganglia, cerebellum, and cervical spinal cord in three normal baboon subjects. Although significantly less prominent than human cortical gray matter, a distinct partition of TF in gray matter >white matter was noted. The gray matter predilection of TF was confirmed in primate temporal and parietal lobe cortex by both sandwich ELISA and one-stage coagulation assay. Variation in the relative quantity of TF antigen was observed by ELISA among the three subjects studied. Procoagulant activity followed the pattern of TF antigen (cortical gray matter >basal ganglia ≥cerebellum >cortical white matter), and was 96.5–98.5% inhibitable by a function inhibiting anti-human TF MoAb combination. TF antigen was associated with the microvasculature of all cerebral tissues studied, and spared capillaries most selectively in the cerebral cortex, basal ganglia, and cerebellum. These findings suggest a highly specific ordering of TF antigen and related procoagulant activity in the central nervous system of the baboon, confined primarily to gray matter parenchyma, and to the non-capillary microvasculature.

scholarly journals Idiopathic basal ganglia calcification (Fahr’s disease) in a 9-year-old Nigerian child

2021 ◽  
Vol 48 (1) ◽  
pp. 46-49
Author(s):  
Clifford O. Okike ◽  
Obinna C. Ajaegbu ◽  
Lazerus Origbo ◽  
Uzoamaka V. Muoneke
Keyword(s):  
Basal Ganglia ◽  
Neurodegenerative Disorder ◽  
Female Child ◽  
Recurrent Seizure ◽  
Basal Ganglia Calcification ◽  
Fahr’S Disease ◽  
Fahr's Disease ◽  
Nigerian Child ◽  
Idiopathic Basal Ganglia Calcification ◽  
History Of

Fahr’s disease is a rare neurodegenerative disorder characterized by deposition of calcium on the walls of blood vessels of the Basal ganglia and Dentate nuclei of the Cerebellum. Patient can present with diverse array of symptoms including but not limited to seizure, extrapyramidal symptoms and mental retardation. We report a case of a 9-year-old female child with history of recurrent seizure. Brain CT showed symmetrical calcification in the basal ganglia.

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