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Physiotherapy management focusing on proprioceptive impairment in a patient with gait and balance impairments following stroke: A case report
CONCLUSION: Quantitatively evaluating proprioceptive impairments may provide novel rehabilitation for patients with stroke who have proprioceptive impairments and contribute to clinical decision-making.PMID:38516762 | DOI:10.1080/09593985.2024.2332792 (Source: Physiotherapy Theory and Practice)
Source: Physiotherapy Theory and Practice - March 22, 2024 Category: Physiotherapy Authors: Aisuke Takahashi Shun Kitsunai Hikaru Kawana Naoshi Saito Akioh Yoshihara Katsuhiro Furukawa Source Type: research

Large conductance voltage-and calcium-activated K+ (BK) channel in health and disease
Large Conductance Voltage- and Calcium-activated K+ (BK) channels are transmembrane pore-forming proteins that regulate cell excitability and are also expressed in non-excitable cells. They play a role in regulating vascular tone, neuronal excitability, neurotransmitter release, and muscle contraction. Dysfunction of the BK channel can lead to arterial hypertension, hearing disorders, epilepsy, and ataxia. Here, we provide an overview of BK channel functioning and the implications of its abnormal functioning in various diseases. Understanding the function of BK channels is crucial for comprehending the mechanisms involved ...
Source: Frontiers in Pharmacology - March 22, 2024 Category: Drugs & Pharmacology Source Type: research

Consensus Paper: Latent Autoimmune Cerebellar Ataxia (LACA)
We present a novel concept of latent autoimmune cerebellar ataxia (LACA), analogous to latent autoimmune diabetes in adults (LADA). LADA is a slowly progressive form of autoimmune diabetes where patients are often initially diagnosed with type 2 diabetes. The sole biomarker (serum anti-GAD antibody) is not always present or can fluctuate. However, the disease progresses to pancreatic beta-cell failure and insulin dependency within about 5 years. Due to the unclear autoimmune profile, clinicians often struggle to reach an early diagnosis during the period when insulin production is not severely compromised. LACA is also cha...
Source: The Cerebellum - March 20, 2024 Category: Neurology Source Type: research

Gait instability, ophthalmoplegia, and chorea with orofacial dyskinesia in a man with anti-Ri antibodies: a case report
We report the rare manifestation of anti-Ri antibody-associated paraneoplastic neurological syndrome (PNS), and this case can alert us to the importance of respiratory management in this diverse neurologic disease. Furthermore, PNSs positive for anti-Ri antibodies should be added to the list of differential diagnoses of chorea with orofacial dyskinesia. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - March 20, 2024 Category: Neurology Source Type: research

Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease
We present the case of a 19-year-old girl who developed gait ataxia and subtle involuntary movements, preceded by a history of enuresis and severe scoliosis. Her mother has been affected by ataxia since her childhood, which was then complicated by pyramidal signs and heavily worsened through the years. Beyond her mother, no other known relatives suffered from neurologic syndromes. The scenario was further complicated by a complex brain and spinal cord magnetic resonance imaging (MRI) pattern in both mother and daughter. However, the similar clinical phenotype made an inherited cause highly probable. Both AD and autosomal r...
Source: Frontiers in Neurology - March 20, 2024 Category: Neurology Source Type: research

Spinocerebellar ataxia type 4 is not detected in a cohort from Hokkaido, the northernmost island of Japan
Since April 1982, we have been conducting genetic analysis of autosomal dominant spinocerebellar degeneration in Hokkaido [1 –3], the northernmost island of Japan, with a population of over 5 million people. Hokkaido is comparable to countries such as Denmark, Finland, and Norway. It is an island separated from the rest of Japan by the sea on all sides. Many of its inhabitants are descendants of settlers from various pa rts of Japan who arrived after the country's political reformation in 1868 (the Meiji Restoration). (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - March 20, 2024 Category: Neurology Authors: Shinichi Shirai, Keiichi Mizushima, Yuka Shibata, Masaaki Matsushima, Ikuko Iwata, Hiroaki Yaguchi, Ichiro Yabe Source Type: research

Xylazine: A Drug Adulterant of Clinical Concern
AbstractPurpose of ReviewThe opioid epidemic has been responsible for significant morbidity and mortality in the USA and worldwide. As a result, it is essential to recognize the threat these potent drugs can cause when illicitly used. Specifically, introducing fentanyl as a drug adulterant has been shown to impact overdose rates drastically. In this regard, the Drug Enforcement Agency recently released a public safety alert announcing the new threat of a new adulterant called xylazine. Xylazine is a powerful animal sedative with a different mechanism of action when compared to illicit opioids such as heroin and fentanyl. X...
Source: Current Pain and Headache Reports - March 20, 2024 Category: Neurology Source Type: research

Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease
We present the case of a 12-year-old boy diagnosed with a severe primary mitochondrial disease, exhibiting ataxia, spasticity, progressive external ophthalmoplegia, cardiomyopathy and severely disrupted sleep, but no cognitive impairment. Interestingly, his parents reported improved sleep during night train rides. Based on this observation, we installed a rocking bed in the patient's bedroom and performed different interventions, including immersive multimodal vestibular, kinesthetic and auditory stimuli, reminiscent of the sensory experiences encountered during train rides. Over a 5-month period, we conducted four 2-week ...
Source: Journal of Sleep Research - March 19, 2024 Category: Sleep Medicine Authors: Alexander Breuss Marco Strasser Jean-Marc Nuoffer Andrea Klein Eveline Perret-Hoign é Christine Felder Ruth Stauffer Peter Wolf Robert Riener Matthias Gautschi Source Type: research

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
Cell Tissue Res. 2024 Mar 19. doi: 10.1007/s00441-024-03876-9. Online ahead of print.ABSTRACTJoubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements, intellectual disability, and a peculiar cerebellar and brainstem malformation, the "molar tooth sign." Over 40 causative genes have been reported, all encoding for proteins implicated in the structure or functioning of the primary cilium, a subcellular organelle widely present in embryonic and adult tissues. In this paper, we developed an in vitro neuronal differentiation model using patient-d...
Source: Cell Research - March 19, 2024 Category: Cytology Authors: Roberta De Mori Silvia Tardivo Lidia Pollara Silvia Clara Giliani Eltahir Ali Lucio Giordano Vincenzo Leuzzi Rita Fischetto Blanca Gener Santo Diprima Marco J Morelli Maria Cristina Monti Virginie Sottile Enza Maria Valente Source Type: research

Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity
Quantitative measurement of physical activity may complement neurological evaluation and provide valuable information on patients’ daily life. We evaluated longitudinal changes of physical activity in patients with Friedreich ataxia (FRDA) using remote monitoring with wearable sensors. We performed an observational study in 26 adult patients with FRDA and 13 age-sex matched healthy controls (CTR). Participants were asked to wear two wearable sensors, at non-dominant wrist and at waist, for 7 days during waking hours. Evaluations were performed at baseline and at 1-year follow-up. We analysed the percentage of time spent...
Source: Frontiers in Pharmacology - March 19, 2024 Category: Drugs & Pharmacology Source Type: research

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
AbstractJoubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements, intellectual disability, and a peculiar cerebellar and brainstem malformation, the “molar tooth sign.” Over 40 causative genes have been reported, all encoding for proteins implicated in the structure or functioning of the primary cilium, a subcellular organelle widely present in embryonic and adult tissues. In this paper, we developed anin vitro neuronal differentiation model using patient-derived induced pluripotent stem cells (iPSCs), to evaluate possible neurodevelopme...
Source: Cell and Tissue Research - March 19, 2024 Category: Cytology Source Type: research