Josef Finsterer

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Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive spasticity and weakness of the lower-limbs (pure SPG) and, majoritorian, additional more extensive neurological or non-neurological manifestations (complex or complicated SPG). Pure SPG is(More)
The EMG interference pattern, built up of single motor unit action potentials, may be analyzed subjectively, or objectively by computer aided, quantitative methods, like counting of zero-crossings, counting of spikes, amplitude measurements, integration of the area under the curve, decomposition techniques, power spectrum analysis and turn/amplitude(More)
Leigh syndrome (also termed subacute, necrotizing encephalopathy) is a devastating neurodegenerative disorder, characterized by almost identical brain changes, e.g., focal, bilaterally symmetric lesions, particularly in the basal ganglia, thalamus, and brainstem, but with considerable clinical and genetic heterogeneity. Clinically, Leigh syndrome is(More)
Sudden unexplained/unexpected death in epilepsy (SUDEP), with an incidence of 0.35-9.3/1000 patient-years depending on the severity of epilepsy, remains a diagnostic and therapeutic challenge. Potential pathomechanisms comprise cardiac arrhythmia, due to myocardial ischemia, electrolyte disturbances, arrhythmogenic drugs, or transmission of the epileptic(More)
In normal human hearts the left ventricle (LV) has up to 3 prominent trabeculations and is, thus, less trabeculated than the right ventricle. Rarely, more than 3 prominent trabeculations can be found at autopsy and by various imaging techniques in the LV. For this abnormality, different synonyms are used such as spongy myocardium, LV noncompaction, and LV(More)
The central nervous system (CNS) is, after the peripheral nervous system, the second most frequently affected organ in mitochondrial disorders (MCDs). CNS involvement in MCDs is clinically heterogeneous, manifesting as epilepsy, stroke-like episodes, migraine, ataxia, spasticity, extrapyramidal abnormalities, bulbar dysfunction, psychiatric abnormalities,(More)
2012 WRITING GROUP MEMBERS* Cynthia M. Tracy, MD, FACC, FAHA, Chair; Andrew E. Epstein, MD, FACC, FAHA, FHRS, Vice Chair*; Dawood Darbar, MD, FACC, FHRS†; John P. DiMarco, MD, PhD, FACC, FHRS*‡; Sandra B. Dunbar, RN, DSN, FAAN, FAHA†; N.A. Mark Estes III, MD, FACC, FAHA, FHRS*§; T. Bruce Ferguson, Jr, MD, FACC, FAHA* ¶; Stephen C. Hammill, MD, FACC, FHRS‡;(More)
Drooping of the upper eyelid (upper eyelid ptosis) may be minimal (1–2 mm), moderate (3–4 mm), or severe (>4 mm), covering the pupil entirely. Ptosis can affect one or both eyes. Ptosis can be present at birth (congenital) or develop later in life (acquired). Ptosis may be due to a myogenic, neurogenic, aponeurotic, mechanical or traumatic cause. Usually,(More)