Skip to main content

Pathogenicity of the m15043G > A variant

We appreciate the criticism raised by Dr. Alston and colleagues questioning the pathogenicity of the m.15043G > A variant [1]. Irrespective of the question if the variant was responsible for the phenotype or not, there was clinical evidence that the described patient had indeed a mitochondrial disorder. The patient presented with a multisystem phenotype, including focal/generalized seizures, moderate cognitive decline, choreo-ballism, sensori-neural hearing loss (SNHL), primary hypoparathyroidism, myopathy (ptosis), neuropathy, and elevated serum / cerebrospinal fluid (CSF) lactate and pyruvate.

from Journal of the Neurological Sciences https://ift.tt/2ZKCUUH

Comments

Popular posts from this blog

Menopause Symptoms Reduced by Cold Water Swimming

Cold water swimming significantly eases menopausal symptoms. Surveying 1114 women, with 785 experiencing menopause, researchers found improvements in anxiety, mood swings, low mood, and hot flushes among participants. from Neuroscience News https://ift.tt/9AqHsEa

Handwriting Boosts Brain Connectivity and Learning

Handwriting, compared to typing, results in more complex brain connectivity patterns, enhancing learning and memory. This study used EEG data from 36 students to compare brain activity while writing by hand and typing. from Neuroscience News https://ift.tt/0bklQBj

More Education, Longer Life: Global Study Reveals Link

A new study reveals that higher education levels significantly reduce the risk of death, regardless of age, sex, location, or background. Researchers found that each additional year of education decreases death risk by two percent, with 18 years of education lowering it by 34 percent. from Neuroscience News https://ift.tt/oeK38Fk