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Your search keyword '"Roeber, S"' showing total 5 results
Start Over Author "Roeber, S" Language german
5 results on '"Roeber, S"'

2. [A Pair of Siblings with a rare R5H-Mutation in Exon 1 of the MAPT-Gene]

Author

Henz, S., Ackl, N., Knels, C., Rominger, A., Flatz, W., Teipel, S., Huppertz, H. J., Roeber, S., Neumann, Manuela, and Danek, A.

Subjects
Male, genetics [Mutation], MAPT protein, human, tau Proteins, genetics [Psychotic Disorders], Magnetic Resonance Imaging, genetics [tau Proteins], Aphasia, Primary Progressive, ddc:150, Psychotic Disorders, Frontotemporal Dementia, Positron-Emission Tomography, Mutation, Disease Progression, Humans, psychology [Aphasia, Primary Progressive], Female, Age of Onset, diagnosis [Aphasia, Primary Progressive], genetics [Frontotemporal Dementia], genetics [Aphasia, Primary Progressive], Aged
Abstract

We report on a female patient presenting with primary progressive aphasia (PPA) and her brother presenting with psychosis. Both siblings had an R5H-mutation in exon 1 of the MAPT-gene. The PPA patient presented for the first time at the age of 72 years with a 4-year-history of language impairment. After a progressive course the patient died at the age of 76 years. The R5H-MAPT-gene mutation detected in the siblings has been described only once in 2002 by Hayashi et al. [1]. In this previous case from Japan, a 75-year-old patient initially displayed amnesia and disorientation. He became bedridden, with progressive mutism and rigidity of the upper extremities. Noteworthy are the manifold signs and symptoms in R5H-mutations and the late age of onset. For future trials, the detection of biomarkers for frontotemporal lobar degeneration in presymptomatic cohorts like the genetic frontotemporal dementia initiative (GENFI) is of help for stratifying subjects at risk.

Published
2015
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5. [Spinal and cerebral leptomeningeal seeding from a melanocytoma of the cerebello-pontine angle].

Author

Koch HJ, Roeber S, Zimmermann UW, Schäfer C, Villarrubia V, Kuchelmeister K, Schachenmayr W, Bogdahn U, and Steinbrecher A

Subjects
Administration, Oral, Adult, Antineoplastic Agents, Alkylating administration & dosage, Antineoplastic Agents, Alkylating therapeutic use, Arachnoid, Cerebellar Diseases diagnosis, Cerebellar Neoplasms diagnosis, Combined Modality Therapy, Dacarbazine analogs & derivatives, Dacarbazine therapeutic use, Diagnosis, Differential, Disease Progression, Humans, Magnetic Resonance Imaging, Male, Neoplasm Recurrence, Local, Pia Mater, Radiotherapy Dosage, Temozolomide, Time Factors, Cerebellopontine Angle, Melanocytes pathology, Melanoma diagnosis, Melanoma pathology, Meningeal Neoplasms diagnosis, Meningeal Neoplasms drug therapy, Meningeal Neoplasms mortality, Meningeal Neoplasms pathology, Meningeal Neoplasms radiotherapy, Meningeal Neoplasms surgery, Meninges, Neoplasm Seeding
Abstract

Meningeal melanocytoma refers to the uncommon clinical appearance of a generally benign tumour deriving from leptomeningeal melanocytes. Meningeal spread of this tumour is very rarely observed. We present the case of a 38-year-old man with meningeal melanocytoma of the cerebello-pontine angle, who showed a biphasic course of this disease, with a stable period followed by a steady progress within few months. After surgical resection of the melancytoma in the left skull base and of a first local recurrence five years later, a second local recurrence occurred 6 years after diagnosis, with intracerebral and spinal meningeal seeding. This tumor did not respond to a combined radiochemotherapy including oral temozolomide, and the patient died 5 months after starting treatment for this relapse. Secondary malignisation of the melancytoma is suggested.

Published
2005
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