Phenocopy of Amyotrophic Lateral Sclerosis in Patients with Chiari 1 Malformation Associated Syringomyelia: Brief Literature Review DOI Creative Commons
Mustafa Al-Zamil, Natalya G. Kulikova

Personalized Psychiatry and Neurology, Год журнала: 2023, Номер 3(2), С. 25 - 31

Опубликована: Ноя. 15, 2023

Arnold-Chiari malformation or Chiari (CM1) is the name of a group deformities posterior fossa and hindbrain (cerebellum, pons medulla oblongata). The pathogenetic basis this disease associated with herniation cerebellar tonsils through foramen magnum. CM1 classified as rare disease. can present wide variety symptoms, also non-specific, consequent controversies on diagnosis surgical decision-making, particularly in asymptomatic minimally symptomatic. Syringomyelia (Syr), hydrocephalus, craniocervical instability, encephalocele, scoliosis, spina bifida spinal dysraphism are most common comorbidities that may at time develop secondarily. Most attention has been paid to syringomyelia complicated by (CM1-related Syr). Formation single multiple fluid-filled cavities cord and/or bulb result pulse changes intracranial pressure disruption normal cerebrospinal fluid circulation due morphological abnormalities brain magnum level. This condition be rarer caused development damage anterior horns - amyotrophic sclerosis (ALS syndrome). In brief literature review we trying demonstrate mean pathogenic lateral patients chiari 1 syringomyelia.

Язык: Английский

The amyotrophic lateral sclerosis exposome: recent advances and future directions DOI
Stephen A. Goutman, Masha G. Savelieff,

Dae-Gyu Jang

и другие.

Nature Reviews Neurology, Год журнала: 2023, Номер 19(10), С. 617 - 634

Опубликована: Сен. 14, 2023

Язык: Английский

Процитировано

40
Copper toxicity and deficiency: the vicious cycle at the core of protein aggregation in ALS DOI Creative Commons
Jin Hong Min, Heela Sarlus, Robert A. Harris

и другие.

Frontiers in Molecular Neuroscience, Год журнала: 2024, Номер 17

Опубликована: Июль 9, 2024

The pathophysiology of ALS involves many signs a disruption in copper homeostasis, with both excess free levels and functional deficiency likely occurring simultaneously. This is crucial, as important physiological functions are performed by cuproenzymes. While it unsurprising that symptoms related to deficiency, resulting vascular, antioxidant system mitochondrial oxidative respiration deficiencies, there also toxicity such ROS generation enhanced protein aggregation. We discuss how plays key role proteostasis interacts either directly or indirectly the aggregate-prone proteins implicated ALS, TDP-43, C9ORF72, SOD1 FUS well effect their aggregation on homeostasis. suggest loss cuproprotein function at core pathology, condition driven combination unbound can initiate and/or accelerate could trigger positive feedback cycle whereby aggregates other chain reaction eventually captures elements proteostatic mechanisms place counteract them. end result an abundance aggregated non-functional cuproproteins chaperones alongside depleted intracellular stores, general lack cuproenzyme function. then possible aetiology illustrate strong risk factors including environmental toxins BMAA heavy metals functionally behave promote disturb metabolism drives this vicious sporadic ALS. From synthesis, we propose restoration balance using delivery agents chaperones/chaperone mimetics, perhaps conjunction neuroprotective amino acid serine, promising strategy treatment incurable disease.

Язык: Английский

Процитировано

8
Modulation of the gut–brain axis via the gut microbiota: a new era in treatment of amyotrophic lateral sclerosis DOI Creative Commons
Hong Du, Chi Zhang,

Wenshuo Wu

и другие.

Frontiers in Neurology, Год журнала: 2023, Номер 14

Опубликована: Апрель 20, 2023

There are trillions of different microorganisms in the human digestive system. These gut microbes involved digestion food and its conversion into nutrients required by body. In addition, microbiota communicates with other parts body to maintain overall health. The connection between brain is known as gut–brain axis (GBA), involves connections via central nervous system (CNS), enteric (ENS), endocrine immune pathways. regulates bottom-up through GBA, which has prompted researchers pay considerable attention potential pathways might play a role prevention treatment amyotrophic lateral sclerosis (ALS). Studies animal models ALS have shown that dysregulation ecology leads brain–gut signaling. This, turn, induces changes intestinal barrier, endotoxemia, systemic inflammation, contribute development ALS. Through use antibiotics, probiotic supplementation, phage therapy, methods inducing can inhibit inflammation delay neuronal degeneration, clinical symptoms be alleviated, progression disease delayed. Therefore, may key target for effective management

Язык: Английский

Процитировано

18
C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A DOI Creative Commons

Mila Mirceta,

Monika H.M. Schmidt,

Natalie Shum

и другие.

Deleted Journal, Год журнала: 2024, Номер 1(4)

Опубликована: Окт. 1, 2024

Abstract The hyper-unstable Chr9p21 locus, harbouring the interferon gene cluster, oncogenes and C9orf72, is linked to multiple diseases. C9orf72 (GGGGCC)n expansions (C9orf72Exp) are associated with incompletely penetrant amyotrophic lateral sclerosis, frontotemporal dementia autoimmune disorders. C9orf72Exp patients display hyperactive cGAS-STING-linked immune DNA damage responses, but source of immunostimulatory or damaged unknown. Here, we show in pre-symptomatic sclerosis-frontotemporal patient cells brains cause folate-sensitive chromosomal fragile site, FRA9A. FRA9A centers on >33 kb as highly compacted chromatin embedded an 8.2 Mb fragility zone spanning 9p21, encompassing 46 genes, making one largest sites. instability, heightened global- Chr9p-enriched sister-chromatid exchanges, truncated-Chr9s, acentric-Chr9s Chr9-containing micronuclei, providing endogenous sources DNA. Cells from contained a rearranged FRA9A-expressing Chr9 Chr9-wide dysregulated expression. Somatic repeat instability sensitive folate deficiency. Age-dependent can be transferred CNS peripheral tissues transgenic mice, implicating source. Our results highlight unappreciated effects that trigger vitamin-sensitive chromosome fragility, adding structural variations disease-enriched 9p21 likely elsewhere.

Язык: Английский

Процитировано

5
Skeletal Muscle Innervation: Reactive Oxygen Species as Regulators of Neuromuscular Junction Dynamics and Motor Unit Remodeling DOI
Steve D. Guzman, Susan V. Brooks

Free Radical Biology and Medicine, Год журнала: 2025, Номер 230, С. 58 - 65

Опубликована: Янв. 30, 2025

Язык: Английский

Процитировано

0
Vitamins in the Prevention and Support Therapy of Neurodegenerative Diseases DOI Open Access
Karolina Orywal, Katarzyna Socha, Piotr Iwaniuk

и другие.

International Journal of Molecular Sciences, Год журнала: 2025, Номер 26(3), С. 1333 - 1333

Опубликована: Фев. 4, 2025

Neurodegenerative diseases such as Alzheimer’s disease (AD), Parkinson’s (PD), amyotrophic lateral sclerosis (ALS), and multiple (MS), which are a consequence of the progressive loss neuronal function structure, cause significant cognitive impairment. The incidence these in world’s population is constantly increasing result an aging population. Although genetic environmental factors most often mentioned pathogenetic diseases, evidence points to important role proper nutrition prevention support treatment disorders. A healthy, balanced diet can mitigate risks associated with risk above slow progression by reducing oxidative stress inflammation. Vitamins B, D, E, C, K, have been shown functions protect nervous system. This review demonstrates importance vitamins preventing supporting therapy neurodegenerative diseases. Information regarding health-promoting properties must be effectively communicated consumers seeking their health, particularly context Consequently, this also examines authorized health claims under EU food law related vitamins, assessing promoting awareness vitamins’ potential benefits for neuroprotection management

Язык: Английский

Процитировано

0
Nutritional Interventions in Amyotrophic Lateral Sclerosis: From Ketogenic Diet and Neuroprotective Nutrients to the Microbiota-Gut-Brain Axis Regulation DOI

Samira Nabakhteh,

Amir Lotfi,

Arman Afsartaha

и другие.

Molecular Neurobiology, Год журнала: 2025, Номер unknown

Опубликована: Март 17, 2025

Язык: Английский

Процитировано

0
Dietary-Derived Essential Nutrients and Amyotrophic Lateral Sclerosis: A Two-Sample Mendelian Randomization Study DOI Open Access

Kailin Xia,

Yajun Wang, Linjing Zhang

и другие.

Nutrients, Год журнала: 2022, Номер 14(5), С. 920 - 920

Опубликована: Фев. 22, 2022

Previous studies have suggested a close but inconsistent relationship between essential nutrients and the risk of amyotrophic lateral sclerosis (ALS), whether this association is causal remains unknown. We aimed to investigate potential relation (essential amino acids, fatty minerals, vitamins) ALS using Mendelian randomization (MR) analysis. Large-scale European-based genome-wide studies' (GWASs) summary data related (assembling 27,205 patients 110,881 controls) nutrient concentrations were separately obtained. MR analysis was performed inverse variance-weighted (IVW) method, sensitivity conducted by weighted median simple MR-Egger method MR-PRESSO method. found genetically predicted linoleic acid (LA) (OR: 1.066; 95% CI: 1.011-1.125; p = 0.019). An with noted for vitamin D 0.899; 0.819-0.987; 0.025) E 0.461; 0.340-0.626; 6.25 × 10-7). The analyses illustrated similar trends. No effect observed acids minerals on ALS. Our study profiled effects diet-derived circulating demonstrated that are protective against ALS, LA factor

Язык: Английский

Процитировано

18
Efficacy of non-pharmacological interventions for individuals with amyotrophic lateral sclerosis: systematic review and network meta-analysis of randomized control trials DOI Creative Commons
Li Zhao, Hyun‐Sik Kang

Scientific Reports, Год журнала: 2024, Номер 14(1)

Опубликована: Май 18, 2024

Abstract This network meta-analysis (NMA) aimed to compare the efficacy of five non-pharmacological interventions, including exercise intervention (EI), nutritional (NI), respiratory (RI), psychological (PSI), and integrated physical (IPI), on functional status, quality life, muscle strength, pulmonary function, safety in patients with amyotrophic lateral sclerosis (ALS). We searched nine databases, PubMed, Cochrane, Embase, Scopus, Web Science, CNKI, CBM, WFPD, CSTJ, for randomized controlled trials ALS patients. The primary outcome was Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) score. Secondary outcomes were McGill Quality Life Questionnaire (McGill-QoL), Medical Research Council (MRC)-sum score, Forced Vital Capacity (FVC), Fatigue Severity Scale (FSS) NMA conducted using random-effect models calculate standard mean difference (SMD) 95% confidence interval (CI). All types supplemental interventions had some benefit ALS. EI a beneficial effect ALSFRS-R score (SMD: 1.01; CI 0.50–1.51), FVC 0.78; 0.02–1.55), McGill-QoL 0.71 0.33–1.08), MRC 1.11; 0.08–2.14). RI 0.83 0.12–1.55). IPI 0.65 0.06–1.24). NI 0.63 0.02–1.23). current study findings support multimodal strategy an emphasis slowing disease progression

Язык: Английский

Процитировано

3
Microbiome and micronutrient in ALS: From novel mechanisms to new treatments DOI Creative Commons
Jun Sun, Yongguo Zhang

Neurotherapeutics, Год журнала: 2024, Номер 21(6), С. e00441 - e00441

Опубликована: Авг. 31, 2024

Amyotrophic lateral sclerosis is a neurodegenerative disorder. Despite extensive studies, it remains challenging to treat ALS. Recent ALS studies have shown dysbiosis (e.g., loss of microbial diversity and beneficial function in the gut microbiota) correlated with intestinal inflammation change integrity The novel concepts roles microbiome metabolites through gut-microbiome-neuron axis pathogenesis been slowly recognized by neurology research field. Here, we will discuss recent progress microbiome, including bacteria, fungi, viruses, research. We our understanding Micronutrition refers intake essential vitamins, minerals, other micronutrients. summarize literation related micronutrition Furthermore, consider mutual interactions progression treatment. further propose that mechanistic translational shift from suspension disbelief cogent ingenuity, bench study bed-side application, should allow new strategies diagnosis treatment for

Язык: Английский

Процитировано

3