Hereditary sensory and autonomic neuropathies

Results 111 to 120 of about 3,106 (209)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source

ORAL MANIFESTATIONS AND PROSTHETIC REHABILITATION IN HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY (HSAN) TYPE IV: A CASE REPORT

, 2016
Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic syndromes of unknown etiology. They are seen in early childhood and are categorized into six different types by their symptoms.
Tanyeri, Hakki +5 more
core +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2320-2330, October 2026.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc +7 more
wiley +1 more source

Harnessing Natural Killer Cells: From Neuroimmunology to Novel Therapies for Central Nervous System Diseases

MedComm, Volume 7, Issue 10, October 2026.
This review delineates the multifaceted roles of natural killer (NK) cells in the central nervous system, spanning direct cytolysis, immunoregulation, and crosstalk with the brain microenvironment. We evaluate the translational potential and challenges of NK cell immunotherapies for a spectrum of neurological conditions.
Kaihang Deng, Wai Po Chong
wiley +1 more source

Beyond the Physical Symptoms: An Exploratory Single‑Case Psychological Profile of an Adult with HSAN‑II

International Medical Case Reports Journal
Arash Jelodari,1 Laleh Hosseini21Clinical Psychology, Islamic Azad University of Ahvaz, Ahvaz, Iran; 2Rehabilitation Counselling, Payam Noor University of Isfahan, Isfahan, IranCorrespondence: Arash Jelodari, Email Arash.Jelodari@gmx.usAim: Hereditary ...
Jelodari A, Hosseini L
doaj

Mechanism‐Informed Pharmacotherapy Optimization and Deprescribing: A Redox–Mitochondrial Framework

Pharmacology Research &Perspectives, Volume 14, Issue 5, October 2026.
From cumulative drug burden to mitochondrial stress and functional decline. The graphical abstract summarizes the central concept of the review, illustrating how cumulative pharmacotherapy exposure may contribute to redox–mitochondrial stress and thereby reduce biological and functional resilience.
Boštjan Martinc
wiley +1 more source

Mitochondria‐Targeted Nanotherapies in Aging Neurodegenerative Disorders: Emerging Prospects and Clinical Potential

Advanced Healthcare Materials, Volume 15, Issue 36, 25 September 2026.
Mitochondria‐targeted nanotherapies emerge as a promising strategy for combating aging‐associated neurodegenerative disorders (NDs) by restoring mitochondrial function, reducing oxidative stress, and improving neuronal survival. Recent advances in nanotechnology, therapeutic delivery, and translational research are highlighted, providing insights into ...
Dnyandev G. Gadhave +8 more
wiley +1 more source

Wearable‐Derived Diurnal Alignment Between Physical Activity and Device Temperature Predicts Future Disease and Mortality Risk

Advanced Science, Volume 13, Issue 52, 18 September 2026.
Wearable‐derived diurnal alignment between physical activity and device temperature, decomposed into 24 h coupling strength (M24), phase deviation (D24), and 12 h harmonic magnitude (M12), is examined in approximately 90,000 UK Biobank participants.
Han Chen +6 more
wiley +1 more source

A Hydrogen Sulfide–Releasing Dynamic Hydrogel Modulates Coordinated Neurovascular, Immune, and Angiogenic Responses for Scar‐Suppressed Diabetic Wound Repair

Advanced Science, Volume 13, Issue 53, 24 September 2026.
ROS‐Responsive H2S Hydrogel (HAPPF) Coordinated Regeneration for High‐Quality Diabetic Wound Repair.A self‐regulating dynamic hydrogel is developed to deliver a fluorogenic H2S donor in response to excessive ROS. Released H2S acts as a master regulator to resolve chronic inflammation (M2 polarization), restore VEGF‐driven angiogenesis, and rebalance ...
Xuyang Ning +7 more
wiley +1 more source

Longitudinal Single‐Axon‐Resolution Imaging of Peripheral Nerve Injury Response in Mice Using an Optical Window Implant

Advanced Science, Volume 13, Issue 53, 24 September 2026.
A minimally invasive optical window enables stable, long‐term imaging of peripheral nerves in vivo at single‐axon resolution. Dynamic processes of degeneration, regeneration, and cellular remodeling are visualized across multiple time scales within the same nerve region, providing a unique platform to study a variety of anatomical and molecular events ...
Igor D. Luzhansky +15 more
wiley +1 more source

genetics
hsan
familial dysautonomia

congenital insensitivity to pain