Page last updated: 2024-10-20

thiamine and Basal Ganglia Diseases

thiamine has been researched along with Basal Ganglia Diseases in 22 studies

thiamine(1+) : A primary alcohol that is 1,3-thiazol-3-ium substituted by (4-amino-2-methylpyrimidin-5-yl)methyl, methyl and 2-hydroxyethyl groups at positions 3, 4 and 5, respectively.

Basal Ganglia Diseases: Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.

Research Excerpts

ExcerptRelevanceReference
"Atrophy and gliosis in the affected regions were observed in patients with chronic disease."1.39Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. ( Al-Adwani, N; Al-Hashem, A; Al-Shafi, S; Al-Shahwan, S; Al-Zawahmah, M; Azmat, Z; Biary, N; Khan, S; Tabarki, B; Zuccoli, G, 2013)

Research

Studies (22)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (4.55)29.6817
2010's14 (63.64)24.3611
2020's7 (31.82)2.80

Authors

AuthorsStudies
Webster, JJ1
Beryl, S1
George, K1
Wungram, AG1
Karuppusami, R1
Al-Anezi, A1
Sotirova-Koulli, V1
Shalaby, O1
Ibrahim, A1
Abdulmotagalli, N1
Youssef, R1
Hossam El-Din, M1
Alsini, H1
Alnozha, A1
Asmat, Z1
Hundallah, K2
Alfadhel, M3
Tabarki, B3
Maney, K1
Pizoli, C1
Russ, JB1
Nyhan, WL1
McGowan, K1
Barshop, BA1
Gao, M1
Huang, Y1
Zhang, K1
Lyu, Y1
Dong, R1
Ma, J1
Wang, D1
Gai, Z1
Liu, Y1
Kelsch, RD1
Nolan, DA1
Krishnan, A1
Finsterer, J1
Ferreira, CR1
Whitehead, MT1
Leon, E1
Eichler, FS1
Swoboda, KJ1
Hunt, AL1
Cestari, DM1
Rapalino, O1
Mir, A1
Alhazmi, R1
Albaradie, R1
Wen, YX1
Wang, JP1
Chen, Y1
Bao, XH1
Almuntashri, M1
Jadah, RH1
Bashiri, FA1
Al Rifai, MT1
Al Shalaan, H1
Al Balwi, M1
Al Rumayan, A1
Eyaid, W1
Al-Twaijri, W1
Kassem, H1
Wafaie, A1
Alsuhibani, S1
Farid, T1
AlShahwan, S1
AlShafi, S1
AlHashem, A1
Flønes, I1
Sztromwasser, P1
Haugarvoll, K1
Dölle, C1
Lykouri, M1
Schwarzlmüller, T1
Jonassen, I1
Miletic, H1
Johansson, S1
Knappskog, PM1
Bindoff, LA1
Tzoulis, C1
Ygberg, S1
Naess, K1
Eriksson, M1
Stranneheim, H1
Lesko, N1
Barbaro, M1
Wibom, R1
Wang, C1
Wedell, A1
Wickström, R1
Aljabri, MF1
Kamal, NM1
Arif, M1
AlQaedi, AM1
Santali, EYM1
Debs, R1
Depienne, C1
Rastetter, A1
Bellanger, A1
Degos, B1
Galanaud, D1
Keren, B1
Lyon-Caen, O1
Brice, A1
Sedel, F1
Yamada, K1
Miura, K1
Hara, K1
Suzuki, M1
Nakanishi, K1
Kumagai, T1
Ishihara, N1
Yamada, Y1
Kuwano, R1
Tsuji, S1
Wakamatsu, N1
Al-Shafi, S1
Al-Shahwan, S1
Azmat, Z1
Al-Hashem, A1
Al-Adwani, N1
Biary, N1
Al-Zawahmah, M1
Khan, S1
Zuccoli, G1
Subramanian, VS1
Marchant, JS1
Said, HM1

Reviews

3 reviews available for thiamine and Basal Ganglia Diseases

ArticleYear
Basal Ganglia Disease Mimicking Acute Encephalitis Syndrome Among Infants of Bodo Tribe, Assam.
    Indian pediatrics, 2021, Dec-15, Volume: 58, Issue:12

    Topics: Acute Febrile Encephalopathy; Basal Ganglia Diseases; Diagnosis, Differential; Humans; Infant; Magne

2021
Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review.
    Neurology, 2023, 04-25, Volume: 100, Issue:17

    Topics: Adult; Basal Ganglia Diseases; Biotin; Child; Female; Humans; Infant; Magnetic Resonance Imaging; Me

2023
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
    Orphanet journal of rare diseases, 2013, Jun-06, Volume: 8

    Topics: Adolescent; Adult; Basal Ganglia; Basal Ganglia Diseases; Biotin; Child; Child, Preschool; Female; H

2013

Trials

1 trial available for thiamine and Basal Ganglia Diseases

ArticleYear
Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2015, Volume: 19, Issue:5

    Topics: Adolescent; Basal Ganglia Diseases; Biotin; Child; Child, Preschool; Female; Humans; Male; Prospecti

2015

Other Studies

18 other studies available for thiamine and Basal Ganglia Diseases

ArticleYear
Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report.
    Brain & development, 2022, Volume: 44, Issue:4

    Topics: Acute Febrile Encephalopathy; Basal Ganglia; Basal Ganglia Diseases; Biotin; Brain; Child, Preschool

2022
Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease.
    Brain & development, 2022, Volume: 44, Issue:9

    Topics: Basal Ganglia Diseases; Biotin; Caudate Nucleus; Dystonia; Humans; Magnetic Resonance Imaging; Male;

2022
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.
    Clinica chimica acta; international journal of clinical chemistry, 2019, Volume: 499

    Topics: Adult; Basal Ganglia Diseases; Biotin; Female; Humans; Mutation; Phenotype; Thiamin Pyrophosphokinas

2019
[Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease].
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020, Feb-10, Volume: 37, Issue:2

    Topics: Basal Ganglia Diseases; Biotin; Brain; Humans; Infant; Magnetic Resonance Imaging; Male; Membrane Tr

2020
Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement.
    Pediatric radiology, 2021, Volume: 51, Issue:3

    Topics: Basal Ganglia; Basal Ganglia Diseases; Biotin; Child; Humans; Magnetic Resonance Imaging; Membrane T

2021
Are homozygous SLC19A3 deletions non-responsive to thiamine/biotin?
    The Turkish journal of pediatrics, 2020, Volume: 62, Issue:5

    Topics: Basal Ganglia Diseases; Biotin; Humans; Magnetic Resonance Imaging; Membrane Transport Proteins; Thi

2020
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
    American journal of medical genetics. Part A, 2017, Volume: 173, Issue:6

    Topics: Basal Ganglia; Basal Ganglia Diseases; Brain; Child, Preschool; Female; Gene Frequency; High-Through

2017
Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.
    The New England journal of medicine, 2017, Dec-14, Volume: 377, Issue:24

    Topics: Basal Ganglia Diseases; Biotin; Brain; Carbidopa; Diagnosis, Differential; Drug Combinations; Dyston

2017
Biotin-Thiamine-Responsive Basal Ganglia Disease-A Treatable Metabolic Disorder.
    Pediatric neurology, 2018, Volume: 87

    Topics: Basal Ganglia Diseases; Biotin; Child, Preschool; Female; Humans; Magnetic Resonance Imaging; Thiami

2018
[Paroxysmal crying and motor regression for more than two months in an infant].
    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2019, Volume: 21, Issue:4

    Topics: Basal Ganglia Diseases; Crying; Humans; Infant; Magnetic Resonance Imaging; Male; Membrane Transport

2019
Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment.
    AJNR. American journal of neuroradiology, 2014, Volume: 35, Issue:10

    Topics: Basal Ganglia Diseases; Biotin; Brain; Child; Child, Preschool; Female; Humans; Magnetic Resonance I

2014
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
    PloS one, 2016, Volume: 11, Issue:2

    Topics: 5' Untranslated Regions; Adolescent; Alleles; Basal Ganglia; Basal Ganglia Diseases; Biotin; Brain;

2016
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2016, Volume: 20, Issue:3

    Topics: Basal Ganglia Diseases; Biotin; Diagnosis, Differential; Heterozygote; Humans; Infant; Infant, Newbo

2016
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?
    Medicine, 2016, Volume: 95, Issue:40

    Topics: Basal Ganglia Diseases; Biotin; Child, Preschool; Genetic Testing; Humans; Male; Membrane Transport

2016
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.
    Archives of neurology, 2010, Volume: 67, Issue:1

    Topics: Adult; Basal Ganglia; Basal Ganglia Diseases; Biotin; Brain Diseases, Metabolic; DNA Mutational Anal

2010
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.
    BMC medical genetics, 2010, Dec-22, Volume: 11

    Topics: Adolescent; Adult; Asian People; Basal Ganglia Diseases; Biotin; Brain; Child; Female; Genome-Wide A

2010
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.
    Neurology, 2013, Jan-15, Volume: 80, Issue:3

    Topics: Atrophy; Basal Ganglia; Basal Ganglia Diseases; Child; Child, Preschool; Chromosome Mapping; Diffusi

2013
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2.
    American journal of physiology. Cell physiology, 2006, Volume: 291, Issue:5

    Topics: Amino Acid Sequence; Animals; Basal Ganglia Diseases; Biological Transport; Biotin; Caco-2 Cells; Co

2006