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Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis

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Axonal dystrophies.

Nardo Nardocci¹, Giovanna Zorzi

¹Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Handbook of Clinical Neurology

|April 30, 2013

Summary

Neuroaxonal Dystrophies (NADs) are rare neurodegenerative disorders characterized by axonal swelling and iron accumulation. This group includes pantothenate-kinase associated neurodegeneration (PKAN) and infantile neuroaxonal dystrophy (INAD), caused by mutations in PANK-2 and PLA2G6 genes, respectively.

Area of Science:

Neuroscience
Genetics
Neurology

Background:

Neuroaxonal Dystrophies (NADs) are a heterogeneous group of neurodegenerative disorders.
Characterized by neuroaxonal dystrophy (spheroids) and basal ganglia iron accumulation, they are classified under neurodegeneration with brain iron accumulation (NBIA).
Key subtypes include pantothenate-kinase associated neurodegeneration (PKAN) and infantile neuroaxonal dystrophy (INAD).

Purpose of the Study:

To summarize the clinical and genetic features of Neuroaxonal Dystrophies (NADs).
To differentiate between classic and atypical presentations of PKAN and INAD.
To highlight the genetic basis of these conditions.

Main Methods:

Review of clinical and genetic data for NADs.

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Classification of patients based on age of onset and disease progression.

Identification of causative genes for PKAN (PANK-2) and INAD (PLA2G6).

Main Results:

PKAN, caused by PANK-2 mutations, presents in the first decade with dystonia and rigidity, progressing over 15 years.
Atypical PKAN has later onset and slower progression, with potential psychiatric and obsessive-compulsive symptoms.
INAD, linked to PLA2G6 mutations, involves early psychomotor regression followed by neurological decline, optic atrophy, and dementia.

Conclusions:

NADs are distinct neurodegenerative conditions with specific genetic underpinnings.
Understanding the genetic mutations (PANK-2, PLA2G6) is crucial for diagnosing PKAN and INAD.
Distinguishing between classic and atypical forms aids in prognosis and management of these rare neurodegenerative diseases.