Recent CASK Findings

Some Relevant Findings

The functional loss due to the absence of cask occurs due to the death of neurons in the brain;
Regression in adolescence has been observed;
It is suggested that MICPH with CASK is degenerative. This means that there is brain cell loss.
It is also suggested that toxicity caused by the brain cell loss could also affect functioning of the remaining neurons.[1]

[1] The Non-Linear Path from Gene Dysfunction to Genetic Disease

Published Research Papers of Interest

CASK Disorders Ute Moog, MD and Kerstine Kutsche PhD Initial Posting November 2013, last updated 21 May 2020

Phenotypic and molecular insights into CASK-related disorders in males 12 April 2015

Looking behind a rare brain disease for clues to treat more common mental disorders 15 February 2019

Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways July 2020

Scientists Identify how a nonfuctioning CASK gene creates chaos in the brain 24 July 2020.

The Non-Linear Path from Gene Dysfunction to Genetic Disease. Lessons from the MICPH March 2022 .

The role of CASK in Central Nervous System Function and Disorder 25 May 2022

Expanding the natural history study of CASK related Disorders to the prenatal period 29 Sept 2022.