Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
Background:
Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require a standardized score of cerebellar dysfunction. We aim to assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. We compare ICARS results with the Nijmegen Pediatric CDG Rating Scale (NPCRS), neuroimaging, intelligence quotient (IQ) and molecular data.
Methods:
Our observational study included 13 PMM2-CDG patients and 21 control subjects. Ethical permissions and informed consents were obtained. Three independent child neurologists rated PMM2-CDG patients and control subjects using the ICARS. A single clinician administered the NPCRS. All patients underwent brain MRI, and the relative diameter of the midsagittal vermis was measured. Psychometric evaluations were available in six patients. The Mann–Whitney U test was used to compare ICARS between patients and controls. To evaluate inter-observer agreement in patients’ ICARS ratings, intraclass correlation coefficients (ICC) were calculated. ICARS internal consistency was evaluated using Cronbach’s alpha. Spearman’s rank correlat...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Mercedes SerranoVíctor de DiegoJordi MuchartDaniel CuadrasAna FelipeAlfons MacayaRamón VelázquezM. PooCarmen FonsM. O¿CallaghanAngels García-CazorlaCristina BoixBernabé RoblesFrancisco CarrataláMarisa GirósPaz BrionesLaura GortRafael ArtuchCelia P Source Type: research
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