Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

[Severe neuropathy with agenesis of the corpus callosum].

Montréal. Il a pour mission la promotion et la valorisation de la recherche. Érudit offre des services d'édition numérique de documents scientifiques depuis 1998. Pour communiquer avec les responsables d'Érudit : [email protected] Article « La neuropathie sensitivo-motrice héréditaire avec agénésie du corps calleux / Severe neuropathy with agenesis of the corpus callosum » Note : les règles d'écr...

Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum

Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials & Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pe...

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

Missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (KCC3) cause hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), which is a severe neurodegenerative disease characterized by axonal dysfunction and neurodevelopmental defects. We previously reported that KCC3-truncating mutations disrupt brain-type creatine kinas...

Agenesis of the Corpus Callosum

Agenesis of the Corpus Callosum

COMPLETE or partial agenesis of the corpus callosum is uncommon especially in adults; the incidence amongst patients in institutions where numerous air encephalograms are performed is 3% (Carpenter and Drukemiller, 1953). Reil (1812) published the first report of a case, describing the necropsy findings in a 30 year old woman of low mentality; further cases discovered at necropsy were subsequen...