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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

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Brainstem in Machado-Joseph disease: atrophy or small size?

Y Horimoto¹, M Matsumoto, H Yuasa

¹Choju Medical Institute, Fukushimura Hospital, Yamanaka, Noyori, Toyohashi, Japan. holly@nagoya-rehab.or.jp

European Journal of Neurology

|November 29, 2007

Summary

Machado-Joseph disease (MJD) causes progressive atrophy in the pontine base and cerebellum over time. However, midbrain and pontine tegmentum atrophy appears to stabilize early in the disease course.

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Published on: December 18, 2016

Area of Science:

Neuroscience
Genetics
Neurology

Background:

Machado-Joseph disease (MJD), a common hereditary spinocerebellar degeneration, results from CAG repeat expansion in the MJD1 gene.
MJD is characterized by infratentorial structure atrophy, with known correlations between atrophy and CAG repeat length.

Purpose of the Study:

To longitudinally investigate the changing course of brainstem size in individuals with genetically confirmed MJD.
To differentiate regional atrophy progression within the infratentorial structures.

Main Methods:

Longitudinal magnetic resonance imaging (MRI) of seven genetically confirmed MJD cases over 4.5-10.6 years.
Measurement of midsagittal areas of infratentorial structures, including the pontine base, cerebellum, midbrain, and pontine tegmentum.

Main Results:

Progressive atrophy was observed in the pontine base and cerebellum, significantly correlating with patient age.
The midbrain and pontine tegmentum showed atrophy that did not significantly progress over the observation period.
These findings suggest that atrophy in the midbrain and pontine tegmentum may be an early feature, potentially preceding symptom onset.

Conclusions:

Regional differences in atrophy progression exist within the infratentorial structures in Machado-Joseph disease.
The distinct progression patterns likely reflect underlying differences in the neuropathological course of MJD affecting various brainstem regions.