Hereditary sensory and autonomic neuropathies

Results 141 to 150 of about 3,106 (209)

Peripheral Neuropathy: A Phenotype-Driven Review for Diagnosis and Management. [PDF]

Rev Neurol
Yuba T, Dabbagh A, Sabouri AS.
europepmc +1 more source

Exocrine Gland Dysfunction in Parkinson's Disease: Pathophysiology, Clinical Manifestations, and Therapeutic Perspectives—A Narrative Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2081-2092, September 2026.
Abstract Background Non‐motor symptoms, especially autonomic dysfunction, are major contributors to disability and decreased quality of life in Parkinson's disease (PD). Despite being common and having a wide range of clinical facets, exocrine gland dysfunction is still not well recognized and managed.
Renato P. Munhoz +2 more
wiley +1 more source

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease. [PDF]

J Peripher Nerv Syst
Bjelica B +8 more
europepmc +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2045-2058, September 2026.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer +6 more
wiley +1 more source

Neuromodulation for Pain and Fatigue in Hereditary and Acquired Neuromuscular Conditions: A Narrative Review. [PDF]

Curr Pain Headache Rep
Sabiroglu M, Arnold WD.
europepmc +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, Volume 41, Issue 9, Page 2476-2489, September 2026.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinion. [PDF]

Front Neurol
Tournev I +6 more
europepmc +1 more source

Prostate Cancer Development, Progression, and Therapy

MedComm – Oncology, Volume 5, Issue 3, September 2026.
This review provides an integrated overview of prostate cancer development, progression, and therapy, spanning historical milestones, molecular mechanisms, advanced research models, and emerging therapeutic strategies. It highlights recent advances in precision diagnosis, lineage plasticity, therapy resistance, and next‐generation treatments for ...
Xin Jin +9 more
wiley +1 more source

Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report. [PDF]

Front Pediatr
Tang Z +5 more
europepmc +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, Volume 74, Issue S1, Page S41-S51, September 2026.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley +1 more source

genetics
hsan
familial dysautonomia

congenital insensitivity to pain