Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report
We describe here a 73-years-old patient presenting with atypical MSA-P-like phenotype carrying a monoallelic p. W279X mutation in the APTX gene, which causes ataxia with oculomotor apraxia type 1 (AOA1) when in homozygous state. We hypothesize that rare monoallelic APTX variants could modulate MSA risk and phenotype. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - March 19, 2024 Category: Neurology Authors: Alberto Imarisio, Andrea Pilotto, Alessandro Lupini, Giorgio Biasiotto, Isabella Zanella, Riccardo Curr ò, Elisa Vegezzi, Andrea Cortese, Ilaria Palmieri, Enza Maria Valente, Alessandro Padovani Tags: Correspondence Source Type: research
The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
Biochem J. 2024 Mar 20;481(6):461-480. doi: 10.1042/BCJ20240017.ABSTRACTMachado-Joseph disease (MJD) is a devastating and incurable neurodegenerative disease characterised by progressive ataxia, difficulty speaking and swallowing. Consequently, affected individuals ultimately become wheelchair dependent, require constant care, and face a shortened life expectancy. The monogenic cause of MJD is expansion of a trinucleotide (CAG) repeat region within the ATXN3 gene, which results in polyglutamine (polyQ) expansion within the resultant ataxin-3 protein. While it is well established that the ataxin-3 protein functions as a deu...
Source: The Biochemical Journal - March 18, 2024 Category: Biochemistry Authors: Anastasiya Potapenko Jennilee M Davidson Albert Lee Angela S Laird Source Type: research
Cigarette smoking inhibits myoblast regeneration by promoting proteasomal degradation of NPAT protein and hindering cell cycle progression
Curr Res Toxicol. 2024 Mar 2;6:100161. doi: 10.1016/j.crtox.2024.100161. eCollection 2024.ABSTRACTCigarette smoking (CS) causes skeletal muscle dysfunction, leading to sarcopenia and worse prognosis of patients with diverse systemic diseases. Here, we found that CS exposure prevented C2C12 myoblasts proliferation in a dose-dependent manner. Immunoblotting assays verified that CS exposure promoted the expression of cell cycle suppressor protein p21. Furthermore, CS exposure significantly inhibited replication-dependent (RD) histone transcription and caused S phase arrest in the cell cycle during C2C12 proliferation. Mechani...
Source: Cell Research - March 18, 2024 Category: Cytology Authors: Jianfeng Wang Jinling Liu Jingjing Shao Hongyu Chen Luyun Cui Pei Zhang Yinan Yao Jianying Zhou Zhang Bao Source Type: research
The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
Biochem J. 2024 Mar 20;481(6):461-480. doi: 10.1042/BCJ20240017.ABSTRACTMachado-Joseph disease (MJD) is a devastating and incurable neurodegenerative disease characterised by progressive ataxia, difficulty speaking and swallowing. Consequently, affected individuals ultimately become wheelchair dependent, require constant care, and face a shortened life expectancy. The monogenic cause of MJD is expansion of a trinucleotide (CAG) repeat region within the ATXN3 gene, which results in polyglutamine (polyQ) expansion within the resultant ataxin-3 protein. While it is well established that the ataxin-3 protein functions as a deu...
Source: The Biochemical Journal - March 18, 2024 Category: Biochemistry Authors: Anastasiya Potapenko Jennilee M Davidson Albert Lee Angela S Laird Source Type: research
The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
Biochem J. 2024 Mar 20;481(6):461-480. doi: 10.1042/BCJ20240017.ABSTRACTMachado-Joseph disease (MJD) is a devastating and incurable neurodegenerative disease characterised by progressive ataxia, difficulty speaking and swallowing. Consequently, affected individuals ultimately become wheelchair dependent, require constant care, and face a shortened life expectancy. The monogenic cause of MJD is expansion of a trinucleotide (CAG) repeat region within the ATXN3 gene, which results in polyglutamine (polyQ) expansion within the resultant ataxin-3 protein. While it is well established that the ataxin-3 protein functions as a deu...
Source: The Biochemical Journal - March 18, 2024 Category: Biochemistry Authors: Anastasiya Potapenko Jennilee M Davidson Albert Lee Angela S Laird Source Type: research
The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
Biochem J. 2024 Mar 20;481(6):461-480. doi: 10.1042/BCJ20240017.ABSTRACTMachado-Joseph disease (MJD) is a devastating and incurable neurodegenerative disease characterised by progressive ataxia, difficulty speaking and swallowing. Consequently, affected individuals ultimately become wheelchair dependent, require constant care, and face a shortened life expectancy. The monogenic cause of MJD is expansion of a trinucleotide (CAG) repeat region within the ATXN3 gene, which results in polyglutamine (polyQ) expansion within the resultant ataxin-3 protein. While it is well established that the ataxin-3 protein functions as a deu...
Source: The Biochemical Journal - March 18, 2024 Category: Biochemistry Authors: Anastasiya Potapenko Jennilee M Davidson Albert Lee Angela S Laird Source Type: research
The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
Biochem J. 2024 Mar 20;481(6):461-480. doi: 10.1042/BCJ20240017.ABSTRACTMachado-Joseph disease (MJD) is a devastating and incurable neurodegenerative disease characterised by progressive ataxia, difficulty speaking and swallowing. Consequently, affected individuals ultimately become wheelchair dependent, require constant care, and face a shortened life expectancy. The monogenic cause of MJD is expansion of a trinucleotide (CAG) repeat region within the ATXN3 gene, which results in polyglutamine (polyQ) expansion within the resultant ataxin-3 protein. While it is well established that the ataxin-3 protein functions as a deu...
Source: The Biochemical Journal - March 18, 2024 Category: Biochemistry Authors: Anastasiya Potapenko Jennilee M Davidson Albert Lee Angela S Laird Source Type: research
The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
Biochem J. 2024 Mar 20;481(6):461-480. doi: 10.1042/BCJ20240017.ABSTRACTMachado-Joseph disease (MJD) is a devastating and incurable neurodegenerative disease characterised by progressive ataxia, difficulty speaking and swallowing. Consequently, affected individuals ultimately become wheelchair dependent, require constant care, and face a shortened life expectancy. The monogenic cause of MJD is expansion of a trinucleotide (CAG) repeat region within the ATXN3 gene, which results in polyglutamine (polyQ) expansion within the resultant ataxin-3 protein. While it is well established that the ataxin-3 protein functions as a deu...
Source: The Biochemical Journal - March 18, 2024 Category: Biochemistry Authors: Anastasiya Potapenko Jennilee M Davidson Albert Lee Angela S Laird Source Type: research
The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
Biochem J. 2024 Mar 20;481(6):461-480. doi: 10.1042/BCJ20240017.ABSTRACTMachado-Joseph disease (MJD) is a devastating and incurable neurodegenerative disease characterised by progressive ataxia, difficulty speaking and swallowing. Consequently, affected individuals ultimately become wheelchair dependent, require constant care, and face a shortened life expectancy. The monogenic cause of MJD is expansion of a trinucleotide (CAG) repeat region within the ATXN3 gene, which results in polyglutamine (polyQ) expansion within the resultant ataxin-3 protein. While it is well established that the ataxin-3 protein functions as a deu...
Source: The Biochemical Journal - March 18, 2024 Category: Biochemistry Authors: Anastasiya Potapenko Jennilee M Davidson Albert Lee Angela S Laird Source Type: research
The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
Biochem J. 2024 Mar 20;481(6):461-480. doi: 10.1042/BCJ20240017.ABSTRACTMachado-Joseph disease (MJD) is a devastating and incurable neurodegenerative disease characterised by progressive ataxia, difficulty speaking and swallowing. Consequently, affected individuals ultimately become wheelchair dependent, require constant care, and face a shortened life expectancy. The monogenic cause of MJD is expansion of a trinucleotide (CAG) repeat region within the ATXN3 gene, which results in polyglutamine (polyQ) expansion within the resultant ataxin-3 protein. While it is well established that the ataxin-3 protein functions as a deu...
Source: The Biochemical Journal - March 18, 2024 Category: Biochemistry Authors: Anastasiya Potapenko Jennilee M Davidson Albert Lee Angela S Laird Source Type: research
The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review
ConclusionsEpidemiology of MLD by geographic regions, quantitative cognitive data, data on the differences between early- and late-juvenile MLD, and humanistic or economic outcomes were limited. Further studies on clinical, humanistic (i.e., quality of life), and economic outcomes are needed to help inform healthcare decisions for patients with MLD. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 18, 2024 Category: Research Source Type: research
Paraneoplastic neurologic syndrome associated with gynecologic and breast malignancies
Handb Clin Neurol. 2024;200:409-417. doi: 10.1016/B978-0-12-823912-4.00014-1.ABSTRACTGynecologic and breast malignancies are the cancers most commonly associated with paraneoplastic neurologic syndromes, of which the foremost is Yo [Purkinje cell antibody, type 1 (PCA-1)] paraneoplastic cerebellar degeneration. Yo syndrome affects women in the sixth decade and manifests as a subacute severe cerebellar ataxia. The association of the typical clinical picture with the detection of Yo antibodies in a patient's serum or CSF defines the diagnosis. Yo syndrome is always associated with a cancer, and the search for the underlying ...
Source: Clinical Genitourinary Cancer - March 17, 2024 Category: Cancer & Oncology Authors: Elise Peter J érôme Honnorat Virginie Desestret Source Type: research
Paraneoplastic cerebellar and brainstem disorders
Handb Clin Neurol. 2024;200:173-191. doi: 10.1016/B978-0-12-823912-4.00030-X.ABSTRACTParaneoplastic cerebellar and brainstem disorders are a heterogeneous group that requires prompt recognition and treatment to help prevent irreversible neurologic injury. Paraneoplastic cerebellar degeneration is best characterized by Yo antibodies in patients with breast or ovarian cancer. Tr (DNER) antibodies in patients with Hodgkin lymphoma can also present with a pure cerebellar syndrome and is one of the few paraneoplastic syndromes found with hematological malignancy. Opsoclonus-myoclonus-ataxia syndrome presents in both pediatric a...
Source: Clinical Genitourinary Cancer - March 17, 2024 Category: Cancer & Oncology Authors: Justin R Abbatemarco Christian A Vedeler John E Greenlee Source Type: research
Paraneoplastic cerebellar and brainstem disorders
Handb Clin Neurol. 2024;200:173-191. doi: 10.1016/B978-0-12-823912-4.00030-X.ABSTRACTParaneoplastic cerebellar and brainstem disorders are a heterogeneous group that requires prompt recognition and treatment to help prevent irreversible neurologic injury. Paraneoplastic cerebellar degeneration is best characterized by Yo antibodies in patients with breast or ovarian cancer. Tr (DNER) antibodies in patients with Hodgkin lymphoma can also present with a pure cerebellar syndrome and is one of the few paraneoplastic syndromes found with hematological malignancy. Opsoclonus-myoclonus-ataxia syndrome presents in both pediatric a...
Source: Clinical Breast Cancer - March 17, 2024 Category: Cancer & Oncology Authors: Justin R Abbatemarco Christian A Vedeler John E Greenlee Source Type: research
Paraneoplastic neurologic syndrome associated with gynecologic and breast malignancies
Handb Clin Neurol. 2024;200:409-417. doi: 10.1016/B978-0-12-823912-4.00014-1.ABSTRACTGynecologic and breast malignancies are the cancers most commonly associated with paraneoplastic neurologic syndromes, of which the foremost is Yo [Purkinje cell antibody, type 1 (PCA-1)] paraneoplastic cerebellar degeneration. Yo syndrome affects women in the sixth decade and manifests as a subacute severe cerebellar ataxia. The association of the typical clinical picture with the detection of Yo antibodies in a patient's serum or CSF defines the diagnosis. Yo syndrome is always associated with a cancer, and the search for the underlying ...
Source: Clinical Breast Cancer - March 17, 2024 Category: Cancer & Oncology Authors: Elise Peter J érôme Honnorat Virginie Desestret Source Type: research
