Global and regional volume changes in the brains of patients with phenylketonuria

Journal article


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Publication Details

Author list: Soriano-Mas C
Publisher: American Academy of Neurology (AAN)
Publication year: 2006
Journal: Neurology (0028-3878)
Volume number: 66
Issue number: 7
Start page: 1074
End page: 1078
Number of pages: 5
ISSN: 0028-3878
eISSN: 1526-632X
Languages: English-Great Britain (EN-GB)


BACKGROUND: Although phenylketonuria is a treatable disease, patients
with late or nonoptimal phenylalanine-restricted diet may experience
brain damage. The authors used tridimensional MRI and a voxelwise
analysis method to investigate possible volume changes in the brain
parenchyma of patients with phenylketonuria. METHODS: The authors
assessed 27 treated patients (mean age +/- SD, 20 +/- 7 years) and 27
matched control subjects. Global tissue volumes were compared, and
statistical parametric maps of between-group regional volume differences
were obtained for gray and white matter. Anatomic data were correlated
with relevant clinical and biochemical variables. RESULTS: Patients with
phenylketonuria showed smaller gray matter volumes that were associated
with lower IQ and older age at diagnosis. Voxel-based maps revealed
that significant gray matter volume reduction occurred in motor and
premotor cortex and thalamus. A relative increase in gray matter volume
was observed in the ventral part of the striatum. The authors found no
group differences for global white matter measurements. Higher recent
phenylalanine levels, however, were associated with larger global white
matter volume in early-treated patients. Voxel-based maps showed a
relative volume reduction in periventricular white matter and a relative
increase in the region of the internal capsule, extending to the
adjacent thalamus and striatum. CONCLUSIONS: Treated patients may show
significant gray and white matter volume changes related to the duration
and strict observation of dietary treatment. Further studies are needed
to investigate whether the presence of neurologic symptoms may be
explained by specific anatomic alterations.


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Last updated on 2019-13-08 at 00:45