Results 11 to 20 of about 10,587 (266)

Hereditary Sensory and Autonomic Neuropathy V: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2023
Hereditary Sensory and Autonomic Neuropathy (HSAN) are a group of rare inherited disorders that comprises a varied set of disorders which mainly present with sensory dysfunction and deficits in autonomic functions, along with other associated ...
GK Pallavi Urs, Gaurav M Urs, Varsha V Hebbar, Vibha Konanur   +3 more
doaj   +2 more sources

Hereditary Sensory and Autonomic Neuropathy—Report of Two Cases in Siblings and Review of Literature

Indian Journal of Dermatology
Shreya K Gowda, Sonika Garg, Biswanath Behera, Bevan Priyadharsan, Vishal Thakur   +4 more
doaj   +3 more sources

Blended phenotype of TECPR2‐associated hereditary sensory‐autonomic neuropathy and Temple syndrome

Annals of Clinical and Translational Neurology
Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal‐recessive diseases. We present the case of a 3‐year‐old male with a blended phenotype of TECPR2‐related hereditary sensory and autonomic neuropathy (HSAN9) and ...
Umar Zubair, Kathryn Yang, Luca Schierbaum, Amy Tam, Nicole Battaglia, Joshua Rong, Vicente Quiroz, Darius Ebrahimi‐Fakhari   +7 more
doaj   +2 more sources

Hereditary sensory and autonomic neuropathy type V: Report of a rare case

Contemporary Clinical Dentistry, 2015
Hereditary sensory and autonomic neuropathy (HSAN) type V is a rare inherited disease caused by a mutation in the neurotrophic tyrosine kinase receptor, type 1 gene located on chromosome 1 (1q21-q22).
Ritesh Kalaskar, Ashita Kalaskar
doaj   +2 more sources

Exploring CNS Involvement in Pain Insensitivity in Hereditary Sensory and Autonomic Neuropathy Type 4: Insights from Tc-99m ECD SPECT Imaging. [PDF]

Tomography, 2023
Hereditary sensory and autonomic neuropathy type 4 (HSAN4), also known as congenital insensitivity to pain with anhidrosis (CIPA), is a rare genetic disorder caused by NTRK1 gene mutations, affecting nerve growth factor signaling. This study investigates
Chiang CC, Wu YC, Lan CH, Wang KC, Tang HC, Chang ST.   +5 more
europepmc   +2 more sources

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy. [PDF]

Front Neurol, 2022
Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies.
Yuan JH, Higuchi Y, Ando M, Matsuura E, Hashiguchi A, Yoshimura A, Nakamura T, Sakiyama Y, Mitsui J, Ishiura H, Tsuji S, Takashima H.   +11 more
europepmc   +2 more sources

Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant. [PDF]

Neurol Sci
Hereditary sensory and autonomic neuropathies (HSANs) are rare inherited disorders characterized by sensory and autonomic nerve dysfunction classified into eight subtypes.
Ahmad R, Zamani M, Naeem M, Houlden H.
europepmc   +2 more sources

Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report. [PDF]

Case Rep Dent
Hereditary sensory and autonomic neuropathies (HSANs) are rare inheritable syndromes of unknown etiology. They typically appear in early childhood and are categorized into six different types based on their symptoms.
Lala S, Almustafa A.
europepmc   +2 more sources

NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test. [PDF]

Child Neurol Open, 2022
Hereditary sensory and autonomic neuropathies (HSAN) are rare, genetically inherited disorders characterized by impaired unmyelinated nerve fiber function.
Mirchi A, Richer J, Oskoui M, McMillan HJ.   +3 more
europepmc   +2 more sources

A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report. [PDF]

J Med Case Rep
Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1).
Kjellberg A, Gustafsson R, Antonsson P, Hedelin H.   +3 more
europepmc   +2 more sources