Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.

Abstract:

:SPG3A/atlastin-1 gene mutations cause an autosomal dominant form of hereditary spastic paraplegia (SPG3A-HSP). We used positron emission tomography with [(11)C]DTBZ to assess nigrostriatal dopaminergic integrity in two unrelated adults with SPG3A-HSP due to the common SPG3A/atlastin-1 mutation, R239C. Nigrostriatal dopaminergic terminal density was normal. A difference from the human pattern of neurodegeneration is a critical limitation of this Drosophila model of SPG3A-HSP. This major difference between human SPG3A/atlastin-1 mutations and the Drosophila atl(l) phenotype has several possible explanations.

journal_name

J Neurogenet

journal_title

Journal of neurogenetics

authors

Albin RL,Koeppe RA,Rainier S,Fink JK

doi

10.1080/01677060802337307

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

289-94

issue

4

eissn

0167-7063

issn

1563-5260

pii

906553044

journal_volume

22

pub_type

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