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Clinical prodromes of neurodegeneration in Anderson-Fabry disease.

Löhle M, Hughes D, Milligan A, Richfield L, Reichmann H, Mehta A, Schapira AH - Neurology (2015)

Bottom Line: However, patients with AFD did not reveal extrapyramidal motor features or signs of significant cognitive impairment, hyposmia, orthostatic intolerance, or REM sleep behavior disorder, which commonly precede later neurodegenerative disease.Aside from cerebrovascular manifestations and small fiber neuropathy, AFD results in a distinct neurologic phenotype comprising poorer motor performance and specific nonmotor features.In contrast to functional loss of glucocerebrosidase in Gaucher disease, α-galactosidase deficiency in AFD is not associated with a typical cluster of clinical features prodromal for neurodegenerative diseases, such as Parkinson disease.

View Article: PubMed Central - PubMed

Affiliation: From the Department of Clinical Neuroscience, Institute of Neurology (M.L., A.H.V.S.), and the Lysosomal Storage Disorders Unit, Department of Haematology (D.H., A.M., L.R., A.M.), University College London, UK; and the Department of Neurology (M.L., H.R.), Dresden University of Technology, Germany. matthias.loehle@uniklinikum-dresden.de.

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Extrapyramidal motor symptoms in patients with Anderson-Fabry disease (red bars) and age-matched controls (blue bars)N = 110 and n = 57 for patients with Anderson-Fabry disease (AFD) and age-matched controls, respectively. Symptoms were assessed during clinical evaluation with the Movement Disorders Society–revised version of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). Postural instability was evaluated with the pull test. Motor asymmetry was defined as right-minus-left difference score ≥2 on side-specific MDS-UPDRS items. *Fisher exact test. **Pearson χ2 test.
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Figure 2: Extrapyramidal motor symptoms in patients with Anderson-Fabry disease (red bars) and age-matched controls (blue bars)N = 110 and n = 57 for patients with Anderson-Fabry disease (AFD) and age-matched controls, respectively. Symptoms were assessed during clinical evaluation with the Movement Disorders Society–revised version of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). Postural instability was evaluated with the pull test. Motor asymmetry was defined as right-minus-left difference score ≥2 on side-specific MDS-UPDRS items. *Fisher exact test. **Pearson χ2 test.

Mentions: Quantitative assessments of motor function in patients with AFD demonstrated lower gait and transfer speed on the Timed Up and Go test and poorer fine manual dexterity and hand speed on the Purdue Pegboard and the alternate tap test, respectively (table 2 and figure 1). Interestingly, these impairments were still evident when we used the NIHSS as covariate instead of age in order to correct for potential focal neurologic deficits due to cerebrovascular disease (results not shown). Evaluation of extrapyramidal motor function with the MDS-UPDRS parts II and III revealed higher scores in patients with AFD compared to controls, indicating more impairment in motor experiences of daily living and extrapyramidal motor function. Evaluation of extrapyramidal symptoms demonstrated more asymmetric motor slowing and a trend for more postural instability in patients with AFD, whereas frequencies of tremor, rigidity, and reduced arm swing during gait were similar between groups (figure 2). Assessment for focal neurologic deficits with the NIHSS demonstrated very low scores in all groups, although mean NIHSS scores were slightly higher in patients with AFD, as expected in a disease with known potential cerebrovascular manifestations.


Clinical prodromes of neurodegeneration in Anderson-Fabry disease.

Löhle M, Hughes D, Milligan A, Richfield L, Reichmann H, Mehta A, Schapira AH - Neurology (2015)

Extrapyramidal motor symptoms in patients with Anderson-Fabry disease (red bars) and age-matched controls (blue bars)N = 110 and n = 57 for patients with Anderson-Fabry disease (AFD) and age-matched controls, respectively. Symptoms were assessed during clinical evaluation with the Movement Disorders Society–revised version of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). Postural instability was evaluated with the pull test. Motor asymmetry was defined as right-minus-left difference score ≥2 on side-specific MDS-UPDRS items. *Fisher exact test. **Pearson χ2 test.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4390387&req=5

Figure 2: Extrapyramidal motor symptoms in patients with Anderson-Fabry disease (red bars) and age-matched controls (blue bars)N = 110 and n = 57 for patients with Anderson-Fabry disease (AFD) and age-matched controls, respectively. Symptoms were assessed during clinical evaluation with the Movement Disorders Society–revised version of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). Postural instability was evaluated with the pull test. Motor asymmetry was defined as right-minus-left difference score ≥2 on side-specific MDS-UPDRS items. *Fisher exact test. **Pearson χ2 test.
Mentions: Quantitative assessments of motor function in patients with AFD demonstrated lower gait and transfer speed on the Timed Up and Go test and poorer fine manual dexterity and hand speed on the Purdue Pegboard and the alternate tap test, respectively (table 2 and figure 1). Interestingly, these impairments were still evident when we used the NIHSS as covariate instead of age in order to correct for potential focal neurologic deficits due to cerebrovascular disease (results not shown). Evaluation of extrapyramidal motor function with the MDS-UPDRS parts II and III revealed higher scores in patients with AFD compared to controls, indicating more impairment in motor experiences of daily living and extrapyramidal motor function. Evaluation of extrapyramidal symptoms demonstrated more asymmetric motor slowing and a trend for more postural instability in patients with AFD, whereas frequencies of tremor, rigidity, and reduced arm swing during gait were similar between groups (figure 2). Assessment for focal neurologic deficits with the NIHSS demonstrated very low scores in all groups, although mean NIHSS scores were slightly higher in patients with AFD, as expected in a disease with known potential cerebrovascular manifestations.

Bottom Line: However, patients with AFD did not reveal extrapyramidal motor features or signs of significant cognitive impairment, hyposmia, orthostatic intolerance, or REM sleep behavior disorder, which commonly precede later neurodegenerative disease.Aside from cerebrovascular manifestations and small fiber neuropathy, AFD results in a distinct neurologic phenotype comprising poorer motor performance and specific nonmotor features.In contrast to functional loss of glucocerebrosidase in Gaucher disease, α-galactosidase deficiency in AFD is not associated with a typical cluster of clinical features prodromal for neurodegenerative diseases, such as Parkinson disease.

View Article: PubMed Central - PubMed

Affiliation: From the Department of Clinical Neuroscience, Institute of Neurology (M.L., A.H.V.S.), and the Lysosomal Storage Disorders Unit, Department of Haematology (D.H., A.M., L.R., A.M.), University College London, UK; and the Department of Neurology (M.L., H.R.), Dresden University of Technology, Germany. matthias.loehle@uniklinikum-dresden.de.

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Related in: MedlinePlus