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Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA).
Hashizume A, Fischbeck KH, Pennuto M, Fratta P, Katsuno M. Hashizume A, et al. J Neurol Neurosurg Psychiatry. 2020 Oct;91(10):1085-1091. doi: 10.1136/jnnp-2020-322949. J Neurol Neurosurg Psychiatry. 2020. PMID: 32934110 Review.
Spinal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder caused by CAG trinucleotide expansion in the gene encoding the androgen receptor (AR). ...The serum level of creatinine starts to decrease before the onset of muscle weakness, followed by the …
Spinal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder caused by CAG trinucleotide expansion in the gene en …
Inborn errors of copper metabolism.
Kaler SG. Kaler SG. Handb Clin Neurol. 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. Handb Clin Neurol. 2013. PMID: 23622398 Free PMC article. Review.
Two copper-transporting ATPases are essential for mammalian copper homeostasis: ATP7A, which mediates copper uptake in the gastrointestinal tract and copper delivery to the brain, and ATP7B, which mediates copper excretion by the liver into bile. ...Excellent treatment opt …
Two copper-transporting ATPases are essential for mammalian copper homeostasis: ATP7A, which mediates copper uptake in the gastrointe …
SUMO-regulated mitochondrial function in Parkinson's disease.
Guerra de Souza AC, Prediger RD, Cimarosti H. Guerra de Souza AC, et al. J Neurochem. 2016 Jun;137(5):673-86. doi: 10.1111/jnc.13599. Epub 2016 Apr 5. J Neurochem. 2016. PMID: 26932327 Free article. Review.
Parkinson's disease (PD) is the second most common neurodegenerative disorder characterized by cardinal motor signs such as rigidity, bradykinesia or rest tremor that arise from a significant death of dopaminergic neurons. ...Recent studies suggest that SUMOylation can int …
Parkinson's disease (PD) is the second most common neurodegenerative disorder characterized by cardinal motor signs such as rigidity, bradyk …
[Genetics of movement disorders-rare but important].
Klebe S, Timmann D. Klebe S, et al. Nervenarzt. 2019 Feb;90(2):197-210. doi: 10.1007/s00115-018-0659-1. Nervenarzt. 2019. PMID: 30645659 Review. German.
This article provides the reader with an overview of the most important groups of genetic movement disorders. Genetic Parkinson syndromes, dystonia, essential tremor, genetic chorea, cerebellar ataxia and hereditary spastic paraplegia are dealt with in detail …
This article provides the reader with an overview of the most important groups of genetic movement disorders. Genetic Parkinson syndromes, d …
Rare causes of hereditary iron overload.
Ponka P. Ponka P. Semin Hematol. 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. Semin Hematol. 2002. PMID: 12382200 Review.
Homozygous defects in a recently identified gene encoding transferrin receptor 2 lead to iron overload (hemochromatosis type 3) with symptoms similar to those seen in patients with HFE-associated hereditary hemochromatosis (hemochromatosis type 1). Transferrin recep …
Homozygous defects in a recently identified gene encoding transferrin receptor 2 lead to iron overload (hemochromatosis type 3) with …
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Ponka P. Ponka P. Ann N Y Acad Sci. 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022. Ann N Y Acad Sci. 2004. PMID: 15105272 Review.
Iron is essential for oxidation-reduction catalysis and bioenergetics; however, unless appropriately shielded, this metal plays a crucial role in the formation of toxic oxygen radicals that can attack all biological molecules. ...Mice with a targeted disruption of a gene f …
Iron is essential for oxidation-reduction catalysis and bioenergetics; however, unless appropriately shielded, this metal plays a cru …
I123-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review.
Quintas S, Sanles-Falagan R, Berbís MÁ. Quintas S, et al. Mov Disord Clin Pract. 2024 Jun;11(6):613-625. doi: 10.1002/mdc3.14055. Epub 2024 May 1. Mov Disord Clin Pract. 2024. PMID: 38693679 Review.
The performance of DaTSCAN is generally recommended in the follow-up of patients with a clinically uncertain diagnosis, especially in those with a suspected essential tremor, drug-induced parkinsonism, or vascular parkinsonism. ...Duplicated publications and studies …
The performance of DaTSCAN is generally recommended in the follow-up of patients with a clinically uncertain diagnosis, especially in those …
Hereditary motor-sensory neuropathy and movement disorders.
Cardoso FE, Jankovic J. Cardoso FE, et al. Muscle Nerve. 1993 Sep;16(9):904-10. doi: 10.1002/mus.880160904. Muscle Nerve. 1993. PMID: 8355721 Review.
The following movement disorders were observed in the index patients: postural tremor in 6, rest tremor in 3, and Parkinsonism and dystonia in 2. ...The overlap in clinical features between HMSN-associated tremor and essential tremor (ET) …
The following movement disorders were observed in the index patients: postural tremor in 6, rest tremor in 3, and Parkinsonism …
[A new mechanism of mutation in man: expansion of trinucleotide repeats].
Illarioshkin SN, Ivanova-Smolenskaia IA, Markova ED. Illarioshkin SN, et al. Genetika. 1995 Nov;31(11):1478-89. Genetika. 1995. PMID: 8666217 Review. Russian.
The expansion of trinucleotide repeats causes the development of at least seven hereditary diseases which damage the nervous system: the fragile X chromosome syndrome (two separate variants of the disease - FRAXA and FRAXE), myotonic dystrophy, spinal and bulbar Kennedy's …
The expansion of trinucleotide repeats causes the development of at least seven hereditary diseases which damage the nervous system: …