Results 121 to 130 of about 1,452,519 (228)

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

Clinical Genetics, EarlyView.
A 43‐year‐old woman developed a progressive adult‐onset upper motor neuron syndrome fulfilling the clinical criteria for primary lateral sclerosis (PLS), with mild cerebellar involvement. Genetic testing identified a de novo ATP1A3 p.Arg995His variant affecting a highly conserved residue within the transmembrane M8 domain.
Pablo Hernandez‐Vitorique, Marta García de Burgos, Ana Campos Villegas, María José Gómez Heredia, Pilar Carbonell Corvillo   +4 more
wiley   +1 more source

The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants

American Journal of Ophthalmology Case Reports
Purpose: Leber Hereditary Optic Neuropathy (LHON) and Autosomal Dominant Optic Atrophy (ADOA) are hereditary optic neuropathies characterized by mitochondrial dysfunctions causing destruction to the retinal ganglion cells and their axons, painless ...
Mohammed A. Halawani, Nooran O. Badeeb
doaj   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Molecular genetic characterization of ataxic movement disorders in mouse and human [PDF]

, 2009
Deletion at ITPR1 underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease ...
van de Leemput, J.C.H., van de Leemput, J C H   +1 more
core  

Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy

JCI Insight
The degeneration of retinal ganglion cells (RGC) due to mitochondrial dysfunctions manifests optic neuropathy. However, the molecular components of RGC linked to optic neuropathy manifestations remain largely unknown.
Chenghui Wang, Liyao Zhang, Zhipeng Nie, Min Liang, Hanqing Liu, Qiuzi Yi, Chunyan Wang, Cheng Ai, Juanjuan Zhang, Yinglong Gao, Yanchun Ji, Min-Xin Guan   +11 more
doaj   +1 more source

Phenotypic variability related to dominant UCHL1 mutations:about three families with optic atrophy and ataxia

Introduction: Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4].
Koenig, M., Hersent, C., Koenig, Michel, Benkirane, M., Nadjar, Y., Hao, Q.; id_orcid, Meunier, I., Hao, Q., Ramond, F., Taieb, G., Vignal, C., Marelli, C., Frost, S., Leboucq, N., Blanchet, C., Bocquet, B.   +15 more
core   +1 more source

Autosomal Dominant Optic Atrophy [PDF]

, 2020
openaire   +1 more source

Organoids: Current Applications and Future Directions

MedComm, Volume 7, Issue 10, October 2026.
Organoids are three‐dimensional multicellular structures derived from stem cells or primary tissues that recapitulate key structural and functional features of native organs. Advances in stem cell biology, biomaterials, and bioengineering have established organoids as powerful platforms for studying human development and disease mechanisms, drug ...
Yueqi Leng, Yue Wang, Canhui Cao, Feng Deng, Weisi Lian, Xingtong Chen, Mingmei Lin, Zhonghong Zeng, Dan Mo, Shangqi Li, Yilei He, Yang Yu, Heng Pan, Ping Zhou, Rong Li   +14 more
wiley   +1 more source

Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
Proper myelin formation is crucial for normal neural circuit function, while myelin deficiency can lead to neural circuit dysfunction and cognitive decline, notably in Alzheimer's disease and other central nervous system demyelinating disorders. This review summarizes central myelin's structure and function, demyelination biomarkers and pathological ...
Lihong Huang, Peng Cheng, Guangdong Liu, Yang Xiang, Zhen Hong, Weidong Le   +5 more
wiley   +1 more source

Does acute loss of vision in Autosomal Dominant Optic Atrophy occur early in childhood?

, 2010
Purpose:In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients.
Kearns, Lisa S., Kearns, LS, Forrest, Michael, Churchill, Amanda J., Cohn, AC, Cohn, Amy C., Mackey, David A., Mackey, DA, Forrest, M, Churchill, AJ   +9 more
core   +1 more source