Related Experiment Video
Updated: Oct 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients
V Leuzzi1, A Rinna, M Gallucci
1Dipartimento di Scienze Neurologiche e Psichiatriche dell'Età Evolutiva, Università "la Sapienza," Rome, Italy.
Abstract:
The authors report three related patients, two girls and a boy, presenting a distinctive clinical phenotype characterized by early-onset, slowly progressive ataxia. Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI. There was no mental deterioration. An extensive neurometabolic assessment failed to detect any anomalies in the three patients. The patients originated from a large consanguineous family in southern Italy (Calabria), with a pedigree that was traced back five generations. The disease's pattern of transmission suggests an autosomal recessive trait.
Related Concept Videos
Multiple Sclerosis l: Introduction
Dementia l: Introduction
Disorders of the Nervous Tissue
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Huntington Disease l: Introduction
Pleiotropy
Alzheimer Disease l: Introduction

