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Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.
Rowe, Olivia E; Rangaprakash, D; Weerasekera, Akila; Godbole, Neha; Haxton, Elizabeth; James, Peter F; Stephen, Christopher D; Barry, Robert L; Eichler, Florian S; Ratai, Eva-Maria.
Affiliation
  • Rowe OE; Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, USA.
  • Rangaprakash D; Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, USA.
  • Weerasekera A; Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, USA.
  • Godbole N; Leukodystrophy Clinic, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Haxton E; Leukodystrophy Clinic, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • James PF; Leukodystrophy Clinic, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Stephen CD; Center for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Movement Disorders Division and Ataxia Center, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Barry RL; Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, USA; Harvard-Massachusetts Institute of Technology Health Sciences & Technology, Cambridge, MA, USA.
  • Eichler FS; Leukodystrophy Clinic, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Ratai EM; Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, USA; Division of Neuroradiology, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic a
Mol Genet Metab ; 133(4): 386-396, 2021 08.
Article in En | MEDLINE | ID: mdl-34226107
ABSTRACT

OBJECTIVE:

Our study aimed to quantify structural changes in relation to metabolic abnormalities in the cerebellum, thalamus, and parietal cortex of patients with late-onset GM2-gangliosidosis (LOGG), which encompasses late-onset Tay-Sachs disease (LOTS) and Sandhoff disease (LOSD).

METHODS:

We enrolled 10 patients with LOGG (7 LOTS, 3 LOSD) who underwent a neurological assessment battery and 7 age-matched controls. Structural MRI and MRS were performed on a 3 T scanner. Structural volumes were obtained from FreeSurfer and normalized by total intracranial volume. Quantified metabolites included N-acetylaspartate (NAA), choline (Cho), myo-inositol (mI), creatine (Cr), and combined glutamate-glutamine (Glx). Metabolic concentrations were corrected for partial volume effects.

RESULTS:

Structural analyses revealed significant cerebellar atrophy in the LOGG cohort, which was primarily driven by LOTS patients. NAA was lower and mI higher in LOGG, but this was also significantly driven by the LOTS patients. Clinical ataxia deficits (via the Scale for the Assessment and Rating of Ataxia) were associated with neuronal injury (via NAA), neuroinflammation (via mI), and volumetric atrophy in the cerebellum.

INTERPRETATION:

The decrease of NAA in the cerebellum suggests that, in addition to cerebellar atrophy, there is ongoing impaired neuronal function and/or loss, while an increase in mI indicates possible neuroinflammation in LOGG (more so within the LOTS subvariant). Quantifying cerebellar atrophy in relation to neurometabolic differences in LOGG may lead to improvements in assessing disease severity, progression, and pharmacological efficacy. Lastly, additional neuroimaging studies in LOGG are required to contrast LOTS and LOSD more accurately.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spectrum Analysis / Magnetic Resonance Imaging / Gangliosidoses, GM2 / Late Onset Disorders Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2021 Document type: Article Affiliation country: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spectrum Analysis / Magnetic Resonance Imaging / Gangliosidoses, GM2 / Late Onset Disorders Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2021 Document type: Article Affiliation country: Estados Unidos