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Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

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Published on: June 3, 2020

Neuropsychological functioning and progression in Lafora disease.

Serena Mazzone^1,2, Lorenzo Muccioli¹, Maria Tappatà¹

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.

|July 10, 2026

Summary

Lafora disease (LD) significantly impacts cognitive function and adaptive skills, particularly executive functions and communication. Early detection using tests like the Children's Color Trail Test (CCTT) is crucial for managing this progressive neurological disorder.

Keywords:

adaptive functioning biomarker executive dysfunction neuropsychology progressive myoclonus epilepsy

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Eye-Tracking Control to Assess Cognitive Functions in Patients with Amyotrophic Lateral Sclerosis

Eye-Tracking Control to Assess Cognitive Functions in Patients with Amyotrophic Lateral Sclerosis

Published on: October 13, 2016

Area of Science:

Neuroscience
Genetics
Epilepsy Research

Background:

Lafora disease (LD) is a rare, severe, and progressive myoclonus epilepsy.
Cognitive decline and dementia are hallmarks of LD, but detailed neuropsychological profiles are lacking.
Understanding LD's cognitive and adaptive functioning is vital for patient care and research.

Purpose of the Study:

To characterize the comprehensive neuropsychological profile of Lafora disease patients.
To assess adaptive functioning and its relationship with cognitive deficits in LD.
To evaluate the progression of cognitive and adaptive impairments over 12 months.

Main Methods:

A monocentric cohort study involving 14 Lafora disease patients.
Administration of a neuropsychological battery including Leiter-3, Children's Color Trail Test (CCTT), Wechsler Adult Intelligence Scale-IV Vocabulary, Visual-Motor Integration (VMI), and Vineland Adaptive Behavior Scales (Vineland-II).
Longitudinal follow-up data collected at 12 months with normalized z-scores for analysis.

Main Results:

71% of patients exhibited impaired intelligence quotient (IQ), with 86% showing executive dysfunction (most prominent deficit).
Visual-motor integration (71%) and verbal abilities (57%) were also impaired.
Adaptive functioning, particularly communication, was significantly reduced, with a downward trend observed over 12 months.

Conclusions:

Lafora disease presents with significant executive dysfunction and reduced adaptive communication skills early in its course.
The CCTT demonstrated sensitivity in detecting early deficits and cognitive decline, supporting its clinical utility.
Standardized neuropsychological testing is essential for tracking LD progression and serves as a key outcome measure in clinical trials.