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

Case Reports in Dentistry
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.
Sana Lala, Ammar Almustafa
doaj   +3 more sources

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

HSAN-VI [PDF]

Neurology: Genetics, 2020
Hereditary sensory and autonomic neuropathy (HSAN-VI) is a recessive genetic disorder that arises because of mutations in the human dystonin gene (DST, previously known as bullous pemphigoid antigen 1). Although initial characterization of HSAN-VI reported it as a sensory neuropathy that was lethal in infancy, we now know of a number of heterozygous ...
Anisha Lynch-Godrei, Rashmi Kothary
exaly   +3 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
doaj   +2 more sources

Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6 [PDF]

Frontiers in Neural Circuits
Hereditary sensory and autonomic neuropathies (HSANs) are a group of recessive genetic disorders affecting the sensory and autonomic components of the peripheral nervous system (PNS). Compared with somatosensory dysfunctions, the pathogenesis of visceral
Nozomu Yoshioka, Nozomu Yoshioka, Nozomu Yoshioka, Nozomu Yoshioka, Masayuki Kurose, Kazuki Tainaka, Takako Ichiki, Yousuke Tsuneoka, Hiromasa Funato, Masaki Ueno, Hayato Ohshima, Ikuo Kageyama, Hirohide Takebayashi, Hirohide Takebayashi   +13 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

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN [PDF]

Brain, 2014
We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness ...
Keivan Kaveh Moghadam, Fabio Pizza, Chiara La Morgia   +2 more
exaly   +7 more sources

Detecting infrared UAVs on edge devices through lightweight instance segmentation. [PDF]

PLoS ONE
MotivationInfrared unmanned aerial vehicle (UAV) detection for surveillance applications faces three conflicting requirements: accurate detection of pixel-level thermal signatures, real-time processing capabilities, and deployment feasibility on resource-
YuZhi Chen, HaoYue Sun, Liang Tian, Ye Yang, ShenYang Wang, TianYou Wang   +5 more
doaj   +2 more sources

The neuropathy-linked protein TECPR2 is a Rab5 effector that regulates cargo recycling from early endosomes [PDF]

Nature Communications
Small GTP-binding proteins of the Rab, Arf, and Arf-like family mediate the recruitment of their effectors to subcellular membrane-bound compartments, which in turn mediate vesicle budding, motility, and tethering.
Sankalita Paul, Rajat Pant, Poonam Sharma, Kshitiz Walia, Suhasi Gupta, Adhil Aseem, Kamlesh Kumari Bajwa, Ruben George, Yudish Varma, Tripta Bhatia, Rajesh Ramachandran, Amit Tuli, Mahak Sharma   +12 more
doaj   +2 more sources

Sensorimotor control in the congenital absence of functional muscle spindles [PDF]

Experimental Physiology
Hereditary sensory and autonomic neuropathy type III (HSAN III), also known as familial dysautonomia or Riley–Day syndrome, results from an autosomal recessive genetic mutation that causes a selective loss of specific sensory neurones, leading to greatly
Vaughan G. Macefield, Lyndon J. Smith, Lucy Norcliffe‐Kaufmann, Jose‐Alberto Palma, Horacio Kaufmann   +4 more
doaj   +2 more sources