Results 1 to 10 of about 10,587 (266)

A rare case of hereditary sensory and autonomic neuropathy type II [PDF]

Clinical Case Reports, 2023
We describe the follow‐up of a 29‐year‐old man diagnosed with hereditary sensory and autonomic neuropathy type II, including the different complications that presented since his childhood.
Elmira Mamytova, Asel Jusupova, Anara Toktomametova, Kunduz Karbozova, Begimay Kadyrova, Yethindra Vityala, Tugolbai Tagaev   +6 more
doaj   +3 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   +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   +3 more sources

Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review [PDF]

BMC Neurology
Background Hereditary sensory and autonomic neuropathy type 9 (HSAN9) is a rare genetic disorder caused by genetic alterations in the TECPR2 locus and is characterized by developmental and intellectual disability, respiratory dysfunction ...
Aysan Moeinafshar, Sahand Tehrani Fateh, Farzad Hashemi-Gorji, Parvaneh Karimzadeh, Elham Gholibeglou, Masoumeh Rostami, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi   +8 more
doaj   +3 more sources

Keratoconus associated with hereditary sensory and autonomic neuropathy II [PDF]

Indian Journal of Ophthalmology, 2022
Zalak Shah, Shwetambari Singh, Dipali Purohit, Neha Shilpy   +3 more
doaj   +4 more sources

Hereditary sensory and autonomic neuropathy type viii: congenital insensitivity to pain with anhidrosis [PDF]

Indian Dermatology Online Journal, 2022
© 2022 Indian Dermatology Online Journal | Published by Wolters Kluwer Medknow Hereditary sensory autonomic neuropathy type VIII (HSAN VIII) is a rare genetic disorder that characterized by insensitivity to pain, anhidrosis, self‐mutilation, and absence ...
Rakhi Kusumesh, Anita Ambastha, Vivek Singh, Ankita Singh   +3 more
doaj   +3 more sources

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Profiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic contributors to phenotypic features.
Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath   +12 more
doaj   +2 more sources

Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation

Indian Journal of Dermatology, 2020
Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation ...
Shital Poojary, Saurabh Jaiswal, Kapisha Sunny Shah, Krishna B Bhalala   +3 more
doaj   +2 more sources

Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE [PDF]

BMC Neurology, 2018
Background DNA methyltransferase 1 (EC 2.1.1.37), encoded by DNMT1 gene, is one of key enzymes in maintaining DNA methylation patterns of the human genome.
Wenxia Zheng, Zhenxing Yan, Rongni He, Yaowei Huang, Aiqun Lin, Wei Huang, Yuying Su, Shaoyuan Li, Victor Wei Zhang, Huifang Xie   +9 more
doaj   +2 more sources

Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report. [PDF]

Iran J Child Neurol, 2016
How to Cite This Article: Azadvari M, Emami Razavi SZ, Kazemi Sh. Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report. Iran J Child Neurol.
Azadvari M, Emami Razavi SZ, Kazemi S.
europepmc   +3 more sources