Anti-CASPR2 antibody-associated syndrome presenting with episodic ataxia
Background: The anti-CASPR2 antibody-associated syndrome is a rare immune-mediated disorder. Most case reports describe neurologic symptoms that include encephalic signs, cerebellar symptoms, peripheral nerve hyperexcitability, dysautonomia and neuropathic pain. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: S. Lopes, L. Francisco, S. Varanda, J.M. Ara újo Source Type: research
Cerebellar Ataxia, Parkinsonism and Peripheral Neuropathy in an Indian Family with MME Mutation
We describe a family with SCA due to a likely pathogenic variant in MME. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: S. Desai, A. Shah Source Type: research
Intronic GAA-FGF14 Expansion in an italian patient presenting with early-onset cerebellar ataxia
Background: Pathogenic heterozygous GAA repeat expansions in the first intron of the FGF14 gene, encoding Fibroblast Growth Factor 14 (FGF14), were recently reported as a novel cause of spinocerebellar ataxia (SCA27B), which typically manifests as an adult-onset, slowly progressive cerebellar syndrome with episodic symptoms, cerebellar ocular motor signs as downbeat nystagmus, diplopia, and dizziness. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: P. Mitrotti, M. Avenali, E. Vegezzi, R. Zangaglia, A. Cortese, R. Curr ò, D. Pellerin, M.-J. Dicaire, B. Brais, I. Palmieri, S. Gana, E.M. Valente Source Type: research
Should Serum NMO Antibody Testing Be Part Of The Initial Work-up In Adult Onset Cerebellar Ataxia
Background: Ataxia is a rare presentation of NMOSD, especially when imaging appears normal. Demyelinating diseases, including NMO spectrum disorders, are an unusual cause of adult-onset cerebellar ataxia. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: M. Tar, A. Maleki, R. Koshy Source Type: research
Lithium toxicity presented as parkinsonism and ataxia
Background: Although drug induced movement disorders are well established and common, they are still overlooked and undiagnosed in clinical practice. Lithium, a non-neuroleptic mood stabilizer causes a continuum from simple side effects to reversible or irreversible neurotoxicity. Lithium neurotoxicity can occur following overdose or during maintenance therapy. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: A. Angelova, G. Novotni, F. Trpcheski, G. Hristovska, I. Jacheva Source Type: research
Magnetic Resonance Imaging Marker for the Conversion from Idiopathic Late-onset Cerebellar Ataxia to Multiple System Atrophy
Background: Although some patients with idiopathic late-onset cerebellar ataxia (ILOCA) are eventually diagnosed with multiple system atrophy with cerebellar type (MSA-C) with disease progression, the markers for this conversion are still not elucidated yet. Therefore, we investigated the imaging marker to predict the conversion from ILOCA to MSA-C based on the baseline magnetic resonance imaging (MRI). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: J.S. Lee, J. Kwon, J. Ha, W.S. Kim, J.H. Ahn, J.H. Won, J. Youn, H. Park, J.W. Cho Source Type: research
A rare case of reversible hemidystonia in chronic hypoparathyroidism with extensive cerebral calcification
We report a rare case of reversible task-specific hemidystonia in chronic hypoparathyroidism with extensive cerebral calcification. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: C.-W. Kim, J.-M. Lee, J.-H. Park Source Type: research
GSE186693 Transcriptional effects of TDP1 deficiency in non-replicating U2OS cells
Contributors : Marco Russo ; Simona Salimbeni ; Giovanni CapranicoSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensSpinocerebellar ataxia with axonal neuropathy (SCAN1) is a rare recessive neurodegenerative syndrome associated with cerebellar atrophy and peripheral neuropathy. It is caused by a homozygous missense mutation in the tyrosyl-DNA phosphodiesterase-1 (TDP1) gene (A1478G). resulting in a substitution of histidine for arginine-493 (H493R) in the TDP1 catalytic site, leading to reduced TDP1 activity. How TDP1 H493R mutation promotes the SCAN1 phenotype, which is associated w...
Source: GEO: Gene Expression Omnibus - April 30, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
AbstractThe aim of this study was to develop a model to predict individual subject disease trajectories including parameter uncertainty and accounting for missing data in rare neurological diseases, showcased by the ultra-rare disease Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS). We modelled the change in SARA (Scale for Assessment and Rating of Ataxia) scoreversus Time Since Onset of symptoms using non-linear mixed effect models for a population of 173 patients with ARSACS included in the prospective real-world multicenter Autosomal Recessive Cerebellar Ataxia (ARCA) registry. We used the Multivariate I...
Source: The AAPS Journal - April 30, 2024 Category: Drugs & Pharmacology Source Type: research
Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia
J Integr Neurosci. 2024 Apr 12;23(4):79. doi: 10.31083/j.jin2304079.ABSTRACTThe clinical category of immune-mediated cerebellar ataxias (IMCAs) is now recognized after 3 decades of clinical and experimental research. The cerebellum gathers about 60% of neurons in the brain, is enriched in numerous plasticity mechanisms, and presents a large variety of antigens at the neuroglial level: ion channels and related proteins, synaptic adhesion/organizing proteins, transmitter receptors, and glial cells. Cerebellar circuitry is especially vulnerable to immune attacks. After the loss of immune tolerance, IMCAs present in an acute o...
Source: Journal of Integrative Neuroscience - April 29, 2024 Category: Neuroscience Authors: Mario Manto Hiroshi Mitoma Source Type: research
Developing a pathway to clinical trials for < em > CACNA1A < /em > -related epilepsies: A patient organization perspective
Ther Adv Rare Dis. 2024 Apr 25;5:26330040241245725. doi: 10.1177/26330040241245725. eCollection 2024 Jan-Dec.ABSTRACTCACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic neurotransmission. The broad spectrum of CACNA1A-related neurological disorders includes developmental and epileptic encephalopathies, familial hemiplegic migraine type 1, episodic ataxia type 2, spinocerebellar ataxia type 6, together with unclassified presentati...
Source: Adv Data - April 29, 2024 Category: Epidemiology Authors: Pangkong M Fox Sunitha Malepati Lisa Manaster Elsa Rossignol Jeffrey L Noebels Source Type: research
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
CONCLUSIONS: This highlights the importance of considering rare inherited causes of visual loss, spinocerebellar ataxia, or/and HH in a neurology clinic and the significant role of genetic sequencing in the diagnostic process.PMID:38683245 | DOI:10.1007/s11033-024-09515-4 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - April 29, 2024 Category: Molecular Biology Authors: Andreas Liampas Paschalis Nicolaou Christina Votsi Anthi Georghiou Kyproula Christodoulou George A Tanteles Marios Pantzaris Source Type: research
Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia
J Integr Neurosci. 2024 Apr 12;23(4):79. doi: 10.31083/j.jin2304079.ABSTRACTThe clinical category of immune-mediated cerebellar ataxias (IMCAs) is now recognized after 3 decades of clinical and experimental research. The cerebellum gathers about 60% of neurons in the brain, is enriched in numerous plasticity mechanisms, and presents a large variety of antigens at the neuroglial level: ion channels and related proteins, synaptic adhesion/organizing proteins, transmitter receptors, and glial cells. Cerebellar circuitry is especially vulnerable to immune attacks. After the loss of immune tolerance, IMCAs present in an acute o...
Source: Journal of Integrative Neuroscience - April 29, 2024 Category: Neuroscience Authors: Mario Manto Hiroshi Mitoma Source Type: research
Developing a pathway to clinical trials for < em > CACNA1A < /em > -related epilepsies: A patient organization perspective
Ther Adv Rare Dis. 2024 Apr 25;5:26330040241245725. doi: 10.1177/26330040241245725. eCollection 2024 Jan-Dec.ABSTRACTCACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic neurotransmission. The broad spectrum of CACNA1A-related neurological disorders includes developmental and epileptic encephalopathies, familial hemiplegic migraine type 1, episodic ataxia type 2, spinocerebellar ataxia type 6, together with unclassified presentati...
Source: Adv Data - April 29, 2024 Category: Epidemiology Authors: Pangkong M Fox Sunitha Malepati Lisa Manaster Elsa Rossignol Jeffrey L Noebels Source Type: research
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
CONCLUSIONS: This highlights the importance of considering rare inherited causes of visual loss, spinocerebellar ataxia, or/and HH in a neurology clinic and the significant role of genetic sequencing in the diagnostic process.PMID:38683245 | DOI:10.1007/s11033-024-09515-4 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - April 29, 2024 Category: Molecular Biology Authors: Andreas Liampas Paschalis Nicolaou Christina Votsi Anthi Georghiou Kyproula Christodoulou George A Tanteles Marios Pantzaris Source Type: research
