Publications by authors named "Franz Holzer"

Article Synopsis
  • - The study investigates the retinal phenotype in two siblings with new genetic variants linked to hereditary spastic paraplegia type 56 (HSP 56), which resemble type 2 macular telangiectasis (MacTel).
  • - Five family members underwent extensive ophthalmic evaluations and genetic testing, revealing that the affected siblings exhibited specific retinal anomalies, including loss of retinal transparency and abnormal pigment distribution.
  • - The findings suggest a potential connection between the observed retinal issues and the genetic variants, indicating a shared pathway in the development of both MacTel and the hereditary condition.
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The understanding of immunological mechanisms underlying some forms of epilepsy and encephalitis has rapidly increased for the last 10 years leading to the concept of status epilepticus of autoimmune origin. Actual treatment recommendations regarding autoimmune status epilepticus are based on retrospective case studies, pathophysiological considerations and experts' opinion. In addition, there are no clear indicators to predict outcome.

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Background: In recent years, an increasing number of auto-antibodies (AB) have been detected in the CSF and serum of patients with new onset epilepsy. Some of these patients develop convulsive or nonconvulsive status epilepticus (AB-SE), necessitating intensive medical care and administration of multiple antiepileptic and immunomodulatory treatments of uncertain effectiveness.

Objectives: In this retrospective multicenter survey we aimed to determine the spectrum of gravity, the duration and the prognosis of the disorder.

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While dementias represent an important problem of social health, they remained underdiagnosed. Data from the literature suggests that only 30% of cognitive impairment are detected and correctly evaluated, while most of the patient (up to 90%) and caregivers (up to 70-80%) ask for a precise diagnosis. Proper evaluation increase diagnostic accuracy from 30% to 80% but 20% of diagnoses remains inexact.

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Background: Plasma homocysteine (tHcy) is a risk factor for cardio-vascular diseases. Furthermore it has been associated with antioxidative status. Additionally balneotherapeutic sulphur baths have been shown to influence antioxidative status.

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