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2 results on '"FRIEDREICHS-ATAXIA"'

1. Age-related reference values for the pediatric Scale for Assessment and Rating of Ataxia: a multicentre study

Author

T. F. Lawerman, Deborah A Sival, Johannes G. M. Burgerhof, Huibert Burger, R. Brandsma, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Reproductive Origins of Adult Health and Disease (ROAHD), Life Course Epidemiology (LCE), and Movement Disorder (MD)

Subjects
Male, medicine.medical_specialty, Pediatrics, Ataxia, Adolescent, HEREDITARY CEREBELLAR-ATAXIA, Intraclass correlation, Placebo-controlled study, CHILDREN, PLACEBO-CONTROLLED TRIAL, Severity of Illness Index, IDEBENONE TREATMENT, DOUBLE-BLIND, 03 medical and health sciences, 0302 clinical medicine, Child Development, Developmental Neuroscience, Reference Values, 030225 pediatrics, Severity of illness, medicine, Humans, Child, FRIEDREICHS-ATAXIA, Gait, Observer Variation, Age Factors, Child development, Confidence interval, Europe, Scale (social sciences), Child, Preschool, Pediatrics, Perinatology and Child Health, RILUZOLE, Physical therapy, Female, Neurology (clinical), medicine.symptom, FOLLOW-UP, Psychology, 030217 neurology & neurosurgery
Abstract

Aim For reliable assessment of ataxia severity in children, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society aimed to validate the Scale for Assessment and Rating of Ataxia (SARA) according to age. Method Twenty-two pediatric ataxia experts from 15 international institutions scored videotaped SARA performances in 156 typically developing children (4–16y: m/f=1; 12 children per year of age; including nine different nationalities). We determined age-dependency and reliability of pediatric SARA scores by a mixed model. Results In typically developing children, age was the only variable that revealed a relationship with SARA scores (p

Published
2017

2. Reviewing the genetic causes of spastic-ataxias

Author

Susanne T. de Bot, Bart P.C. van de Warrenburg, Michèl A.A.P. Willemsen, Hubertus P. H. Kremer, Sascha Vermeer, and Molecular Neuroscience and Ageing Research (MOLAR)

Subjects
DIAGNOSTIC-APPROACH, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Pediatrics, INBORN-ERRORS, Ataxia, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, METABOLISM, CHARLEVOIX-SAGUENAY, Genomic disorders and inherited multi-system disorders [IGMD 3], Diagnosis, Differential, Neuroimaging, Spastic, Pyramidal features, Humans, Medicine, Genetic Predisposition to Disease, FRIEDREICHS-ATAXIA, Clinical syndrome, MUTATIONS, business.industry, PARAPLEGIA, medicine.disease, nervous system diseases, OF-THE-LITERATURE, Muscle Spasticity, ONSET ALEXANDER-DISEASE, Neurology (clinical), medicine.symptom, Differential diagnosis, business, Paraplegia, PARAPARESIS
Abstract

Although the combined presence of ataxia and pyramidal features has a long differential, the presence of a true spastic-ataxia as the predominant clinical syndrome has a rather limited differential diagnosis. Autosomal recessive ataxia of Charlevoix-Saguenay, late-onset Friedreich ataxia, and hereditary spastic paraplegia type 7 are examples of genetic diseases with such a prominent spastic-ataxic syndrome as the clinical hallmark. We review the various causes of spastic-ataxic syndromes with a focus on the genetic disorders, and provide a clinical framework, based on age at onset, mode of inheritance, and additional clinical features and neuroimaging signs, that could serve the diagnostic workup. Neurology (R) 2012;79:1507-1514

Published
2012

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