Results 31 to 40 of about 9,576 (247)

Case report of a 7-year-old CIPA child with multiple debridement's and amputations.

International Journal of Endorsing Health Science Research, 2021
Background: Congenital Insensitivity to Pain (CIPA), otherwise known as Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV), is a rarely occurring autosomal recessive disorder encompassed by a group of hereditary and sensory autonomic ...
Syed Ali Haider Zaidi, Sufyan Razak, Syeda Kiran Fatima, Hafiz Abdul Wase, Syed Mohammad Haider Zaidi, Zeeshan Yousuf, Farah Naz, Bilal Yousuf   +7 more
doaj   +1 more source

V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I

Case Reports in Genetics, 2018
Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by distal sensory loss, pain insensitivity, and autonomic disturbances.
Kwo Wei David Ho, Nivedita U. Jerath
doaj   +1 more source

Corino de Andrade disease: mechanisms and impact on reproduction [PDF]

, 2017
Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive ...
Barros, A., Coelho, T., Lopes, R., Sousa, M.   +3 more
core   +1 more source

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

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   +1 more source

Disease mechanisms in hereditary sensory and autonomic neuropathies

Neurobiology of Disease, 2006
Inherited peripheral neuropathies are common monogenically inherited diseases of the peripheral nervous system. In the most common variant, i.e., the hereditary motor and sensory neuropathies, both motor and sensory nerves are affected. In contrast, sensory abnormalities predominate or are exclusively present in hereditary sensory and autonomic ...
Verpoorten, Nathalie, De Jonghe, Peter, Timmerman, Vincent   +2 more
openaire   +4 more sources

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

Congenital corneal anesthesia: A case series

Indian Journal of Ophthalmology, 2022
Congenital corneal anesthesia (CCA) is an extremely rare condition where the cornea is affected in isolation or as a part of congenital syndrome, or can be associated with systemic anomalies.
Aruna P Jayarajan, Ashok Sharma, Rajan Sharma, Verinder S Nirankari, Shivananda Narayana, Josephine S Christy   +5 more
doaj   +1 more source

Current evidence for a modulation of low back pain by human genetic variants [PDF]

, 2009
The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration
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Hereditary sensory neuropathy type I

Orphanet Journal of Rare Diseases, 2008
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.
Auer-Grumbach Michaela
doaj   +1 more source

Generation of a transgenic mouse embryonic stem cell line expressing Dnmt1Y495C mutation associated with HSAN1E disorder

Stem Cell Research, 2021
DNMT1 Y495C is the most common mutation associated with hereditary sensory and autonomic neuropathy type 1E, and dementia. Here we employed non-homologous recombination and generated a mouse embryonic stem cell line carrying a transgene expressing DNMT1 ...
Sumana Choudhury, K. Naga Mohan
doaj   +1 more source