Juvenile ALS (jALS) is a rare form of ALS, defined as symptom onset before age 25. This report describes the demographic characteristics of confirmed and likely jALS cases in a large cohort of ALS patients ascertained in the National ALS Registry (Registry) from 2010 to 2018. Patients in the Registry must be at least 18 years of age. Of the 44 identified patients, 37.8% were diagnosed at age 24, were more likely to be nonwhite (54.5%), male (79.5%), and live in the Midwest or Northeast regions (54.5%) of the US. Some 68.9% of the jALS cases were received from federal administrative databases, and 16% came from the web portal only. Demographic characteristics for jALS cases in the Registry differed from previous publications examining ALS cases for all adults. More research is needed to better understand risk factors contributing to jALS, which could lead to earlier diagnosis and therapeutic interventions.
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http://dx.doi.org/10.1080/21678421.2023.2264922 | DOI Listing |
Neurol Sci
September 2024
Neuromuscular Unit, Neurology and Psychiatry Department, Faculty of Medicine Ain Shams University, Cairo, 11566, Egypt.
Objective: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder associated with progressive loss of motor neurons. It is a growing and underestimated disease, prompting this epidemiological study to describe the characteristics of ALS in Egyptian patients.
Methods: This is a prospective hospital based study.
Amyotroph Lateral Scler Frontotemporal Degener
February 2024
Agency for Toxic Substances and Disease Registry/Centers for Disease Control and Prevention, Atlanta, GA, USA and.
Juvenile ALS (jALS) is a rare form of ALS, defined as symptom onset before age 25. This report describes the demographic characteristics of confirmed and likely jALS cases in a large cohort of ALS patients ascertained in the National ALS Registry (Registry) from 2010 to 2018. Patients in the Registry must be at least 18 years of age.
View Article and Find Full Text PDFNeurobiol Aging
December 2022
Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia; Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia. Electronic address:
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease. To date, mutations in more than 30 genes have been linked to familial ALS forms. However, no mutational screenings have been reported in African populations so far.
View Article and Find Full Text PDFBiochim Biophys Acta Proteins Proteom
April 2022
Computational Structural Biology Lab, Department of Biotechnology, Indian Institute of Technology Kharagpur, Kharagpur 721302, India. Electronic address:
Amyotrophic lateral sclerosis (ALS) and fronto-temporal lobar degeneration (FTLD) are progressive neurological disorders affecting motor neurons. Cellular aggregates of fused in sarcoma (FUS) protein are found in cytoplasm of ALS and FTLD patients. Nuclear localisation signal (NLS) domain of FUS binds to Karyopherin β2 (Kapβ2), which drives nuclear transport of FUS from cytoplasm.
View Article and Find Full Text PDFBiology (Basel)
January 2022
PolitoBIOMedLab, Department of Mechanical and Aerospace Engineering, Politecnico di Torino, 10129 Torino, Italy.
Infantile-onset Ascending Hereditary Spastic Paralysis, Juvenile Primary Lateral Sclerosis and Juvenile Amyotrophic Lateral Sclerosis are all motor neuron diseases related to mutations on the ALS2 gene, encoding for a 1657 amino acids protein named Alsin. This ~185 kDa multi-domain protein is ubiquitously expressed in various human tissues, mostly in the brain and the spinal cord. Several investigations have indicated how mutations within Alsin's structured domains may be responsible for the alteration of Alsin's native oligomerization state or Alsin's propensity to interact with protein partners.
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