Results 1 to 10 of about 9,576 (247)

Case report: Hereditary sensory autonomic neuropathy presenting as bifid deformity to the tongue [PDF]

Frontiers in Dental Medicine, 2023
Hereditary sensory autonomic neuropathy (HSAN) is a group of rare genetic disorders in which affected patients have a diminished capacity to feel pain.
Kelsey O’Hagan-Wong, Dana Smith, Hernan Gonorazky, Michael Casas   +3 more
doaj   +2 more sources

Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature [PDF]

Brain Sciences
We report a case of hereditary sensory and autonomic neuropathy presenting with childhood-onset symmetric distally predominant limb hypoesthesia to tactile, thermal, and painful stimuli.
Cosmanna Ragucci, Alessandro Furia, Flavia Palombo, Maria Pia Giannoccaro, Veria Vacchiano, Alex Incensi, Vitantonio Di Stasi, Giovanni Rizzo, Rocco Liguori, Vincenzo Angelo Donadio   +9 more
doaj   +2 more sources

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family [PDF]

Human Genome Variation
Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties,
Asad Munir, Helen Nabiryo Frederiksen, Fawad Ali, Sabawoon Shah, Abdur Rashid, Sergey Oreshkov, Kashif Khan, Muhammad Shahzeb, Inam Ullah, Hamid Ur Rahman, Mukhtar Ullah, Muhammad Ansar, Atta Ur Rehman   +12 more
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Blended phenotype of TECPR2‐associated hereditary sensory‐autonomic neuropathy and Temple syndrome [PDF]

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

A case of hereditary sensory autonomic neuropathy type IV

Annals of Indian Academy of Neurology, 2012
Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation.
G P Prashanth, Mahesh Kamate
doaj   +3 more sources

Idiopathic polyneuropathy with neurogenic autonomic failure – an early manifestation of Lewy body disease? a case report [PDF]

BMC Neurology
With the present case we suggest that idiopathic large-fiber polyneuropathy with autonomic failure, pathological cardiac [123I]Metaiodobenzylguanidine (MIBG) scintigraphy and α-synuclein positivity in cutaneous autonomic nerves is a prodromal ...
Naja Helt Andersen, Per Borghammer, Kathrin Doppler, Hanne Gottrup, Karoline Knudsen, Anastasia Kuzkina, Nathalie Van Den Berge, Marit Otto, Astrid Juhl Terkelsen   +8 more
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Keratoconus associated with hereditary sensory and autonomic neuropathy II

Indian Journal of Ophthalmology, 2022
Zalak Shah, Shwetambari Singh, Dipali Purohit, Neha Shilpy   +3 more
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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   +1 more source

Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy [PDF]

Annals of Indian Academy of Neurology
AR Nagaraj, Guduru Shravanthi, Tumulu Kumar, Tumulu Seetam Kumar, Raghavendra Kenchiah, Rohan Mahale, M Sandhya, Gautham Arunachal Udupi, Pooja Mailankody, PS Mathuranath, Hansashree Padmanabha   +10 more
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Glycogen synthase kinase 3ß functions as a positive effector in the WNK signaling pathway. [PDF]

PLoS ONE, 2018
The with no lysine (WNK) protein kinase family is conserved among many species. Some mutations in human WNK gene are associated with pseudohypoaldosteronism type II, a form of hypertension, and hereditary sensory and autonomic neuropathy type 2A.
Atsushi Sato, Hiroshi Shibuya
doaj   +1 more source