Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14

Autor: Tobias Bäumer, Odette Schunke, Simone Zittel, Alexander Münchau, Martina Minnerop, Thomas Klockgether, Christian Gerloff, Peter Bauer, Christina Heinbokel, Christine Zühlke, Christos Ganos
Rok vydání: 2013
Předmět:
Male
Myoclonus
medicine.medical_treatment
genetics [Protein Kinase C]
Audiology
Severity of Illness Index
physiopathology [Dystonia]
Germany
physiopathology [Median Nerve]
Age of Onset
Protein Kinase C
Spinocerebellar Degenerations
Dystonia
Neurologic Examination
protein kinase C gamma
Middle Aged
Transcranial Magnetic Stimulation
genetics [Spinocerebellar Degenerations]
Neurology
Spinocerebellar ataxia
Evoked Potentials
Auditory
Female
medicine.symptom
Psychology
Adult
congenital
hereditary
and neonatal diseases and abnormalities
medicine.medical_specialty
Ataxia
physiopathology [Myoclonus]
physiopathology [Spinocerebellar Degenerations]
Evoked Potentials
Somatosensory
medicine
Humans
Spinocerebellar Ataxias
Family
ddc:610
Aged
Cerebellar ataxia
genetics [Myoclonus]
medicine.disease
genetics [Dystonia]
Median Nerve
Transcranial magnetic stimulation
Somatosensory evoked potential
Evoked Potentials
Visual
Silent period
Neurology (clinical)
Zdroj: The Cerebellum 13(1), 89-96 (2013). doi:10.1007/s12311-013-0522-7
ISSN: 1473-4230
DOI: 10.1007/s12311-013-0522-7
Popis: Spinocerebellar ataxia type 14 (SCA14) is an autosomal-dominant ataxia caused by point mutations of the Protein Kinase C Gamma gene. In addition to slowly progressive cerebellar ataxia, it is characterised by dystonia and myoclonus. With scant neuropathological data and no detailed neurophysiological examinations little is known on extracerebellar consequences of SCA14 related cerebellar pathology. To this end, we here delineate clinical phenomenology and neurophysiology of four German SCA14 families. Detailed clinical examination including ataxia severity evaluation by means of the Scale for the Assessment and Rating of Ataxia (SARA) was carried out in 9 affected family members (mean age 49.8 years ± 14.4 SD). Motor thresholds (MT), the contralateral silent period (CSP), short interval intracortical inhibition (SICI) and intracortical facilitation (ICF), interhemispheric inhibition (IHI) and short afferent inhibition (SAI) were determined using transcranial magnetic stimulation (TMS). Somatosensory evoked potentials (SEP) of the median nerve, and acoustic and visual evoked potentials (AEP, VEP) were also performed. Most patients reported symptoms since early childhood. There was a positive correlation between age and SARA scores (r = .721, P
Databáze: OpenAIRE
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