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Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I
A Palmieri1, R Manara, L Bello
1Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121 Padua, Italy. arianna.palmieri@unipd.it
Abstract:
Limb-girdle muscular dystrophy 2I (LGMD2I) is a neuromuscular disorder with a heterogeneous phenotype. It is caused by mutations in the Fukutin Related Protein (FKRP) gene, which is ubiquitously expressed in human tissues. FKRP functions in CNS are largely unknown. To investigate possible cognitive impairment in LGMD2I and to describe brain MRI features. Ten LGMD2I patients (four males and six females, mean age 44 years, age range 19-69 years) were assessed with an extensive neuropsychological battery, psychopathological tests and neuromuscular specific quality-of-life questionnaire. Adults were compared with ten matched healthy controls. All patients underwent complete neurological examination, and nine underwent brain MRI scanning. Patients showed a fairly specific cognitive profile with mild impairment in executive functions and visuo-spatial planning without substantial impairment in global and logic IQ. MRI findings were heterogeneous: four patients showed non-specific white matter abnormalities; two patients showed moderate ventriculomegaly; three patients showed mild enlargement of subarachnoid spaces, without a specific pattern. Cerebellar atrophy was marked in one patient. Abnormal glycosylation of α-dystroglycan in LGMD2I may interfere with brain development and cognitive performances involving the frontal and posterior parietal regions, but does not result in specific brain MRI abnormalities.
Insights
Limb-girdle muscular dystrophy 2I (LGMD2I) patients exhibit mild cognitive deficits, particularly in executive functions. Brain MRI scans in LGMD2I patients revealed heterogeneous findings without a specific pattern.
Area of Science:
- Neurology
- Neuroscience
- Genetics
Background:
- Limb-girdle muscular dystrophy 2I (LGMD2I) is a neuromuscular disorder caused by mutations in the FKRP gene.
- The function of the Fukutin Related Protein (FKRP) in the central nervous system (CNS) is not well understood.
- LGMD2I presents with a heterogeneous clinical phenotype.
Purpose of the Study:
- To investigate potential cognitive impairments in LGMD2I patients.
- To describe the brain Magnetic Resonance Imaging (MRI) features in individuals with LGMD2I.
Main Methods:
- Ten LGMD2I patients and ten matched healthy controls underwent comprehensive neuropsychological testing and psychopathological assessments.
- Neuromuscular-specific quality-of-life questionnaires were administered.
- Nine LGMD2I patients had brain MRI scans.
Main Results:
- LGMD2I patients demonstrated a distinct cognitive profile characterized by mild impairments in executive functions and visuo-spatial planning.
- Global and logical intelligence quotients (IQ) were not substantially affected.
- Brain MRI findings were diverse, including non-specific white matter abnormalities, ventriculomegaly, and enlarged subarachnoid spaces, with no specific pattern observed.
Conclusions:
- Abnormal glycosylation of alpha-dystroglycan in LGMD2I may impact brain development and cognitive functions related to frontal and posterior parietal regions.
- Despite potential cognitive effects, LGMD2I does not appear to cause specific, identifiable abnormalities on brain MRI scans.
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