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The Italian Journal of Neurological Sciences

, Volume 14, Issue 1, pp 49–54 | Cite as

Amyotrophic choreo-acanthocytosis: A neuropathological and immunocytochemical study

  • Galatioto S 
  • Serra S 
  • Batolo D 
  • Marafioti T 
Original Articles

Abstract

A 47 year old man, one of a sibship affected by amyotrophic choreo-acanthocytosis was studied neuropathologically after some years of clinical observation. Besides the classic optical findings (neuronal loss, astrocytic gliosis and “status spongiosus” in the basal ganglia, namely in the caudate nucleus) a few MEnk+ and NPY+ neurons were observed immunocytochemically in the striatum. In the spinal cord also, while no neuronal loss was perceivable, both mild demyelination and interfibrillary astrocytic hyperplasia of the long tracts were present. On the other hand, microscopic findings of muscle and peripheral nerve showed no differences from what was previously intra-vitam appreciated in the same patient.

The neuropathological and immunocytochemical findings of this case are discussed in relation to the differential diagnosis between amyotrophic choreoacanthocytosis and Huntington's disease.

Key Words

Amyotrophic choreo-acanthocytosis degenerative disease neuropathology immunohistochemistry 

Sommario

Un paziente di 47 anni, membro di una fratria affetta da Coreo-Acantocitosi Amiotrofica, è stato oggetto di studio neuropatologico, dopo alcuni anni di osservazione clinica.

Oltre ai già noti reperti di microscopia ottica (perdita neuronale, gliosi astrocitaria e “status spongiosus” a livello dei nuclei della base, soprattutto del nucleo caudato), immunocitochimicamente furono evidenziati alcuni neuroni striatali MEnk+ e NPY+. A livello del midollo spinale non era riconoscibile perdita neuronale, invece si osservavano modesta demielinizzazione e iperplasia astrocitaria interfascicolare a carico dei tratti lunghi. I reperti presenti a livello del muscolo striato e del tronco nervoso periferico corrispondevano a quelli già descritti su materiale bioptico dello stesso paziente, prelevato alcuni anni prima.

I diversi dati neuropatologici e immunocitochimici del caso osservato sono discussi particolarmente in riferimento alla diagnosi differenziale tra Coreo-Acantocitosi Amiotrofica e Corea di Huntington.

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Copyright information

© Masson Italia Editori 1993

Authors and Affiliations

  • Galatioto S 
    • 1
  • Serra S 
    • 1
  • Batolo D 
    • 2
  • Marafioti T 
    • 2
  1. 1.Istituto di Scienze Neurologiche e NeurochirurgicheUniversità di MessinaMessina
  2. 2.Dipartimento di Patologia UmanaUniversità di MessinaMessina

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