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World Journal of Clinical Cases 2023年第16期11卷 3929-3931页

作者： josef finsterer Department of Neurology Neurology&Neurophysiology CenterVienna 1180Austria

The interesting case report by Zhang et al on a 39 years-old male with Charcot-Marie-Tooth disease type 1X has several *** causal relation between the two episodes of asyndesis,dysphagia,and dyspnea 37 d after the second dose of the inactivated severe acute respiratory syndrome-coronavirus-2(SARS-CoV-2)vaccine(Beijing Institute of Biological Products Co.,Ltd.,Beijing,China)remains ***-CoV-2 vaccination cannot trigger a genetic *** also remains unsupported that the patient had a stroke-like episode(SLE).SLEs occur in mitochondrial disorders but not in hereditary *** of the episodic nature of the neurological symptoms,it is critical to rule out ***,the causal relation between vaccination and the neurological complications remains unsupported and the interpretation of symmetric diffusionweighted imaging lesions on cerebral magnetic resonance imaging should be carefully revised.

关键词： Stroke-like episode Stroke-like lesion SARS-CoV-2 Vaccination Side effect

Rathbun syndrome(hypophosphatasia)due to the heterozygous variant c.297+5G>A in alkaline phosphatase with unusual phenotype

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Chinese Medical Journal 2022年第3期135卷 377-378页

作者： josef finsterer Claudia Stöllberger Department of Neurology Klinik LandstrasseMesserli InstituteViennaAustria nd Medical Department with Cardiology and Intensive Care Medicine Klinik LandstrasseViennaAustria

To the Editor:Hypophosphatasia(HPP)is a musculoskeletal inborn error-of-metabolism caused by variants in alkaline phosphatase(ALPL)with reduced activity of the serum tissue-non-specific alkaline phosphatase,[1]which is predominantly expressed in brain,muscle,bones,liver,and kidneys.[2]Accordingly,HPP is a multi-system disorder affecting bones and more rarely extra-osseus organs.[2]Osseus features of HPP include decreased bone quality,osteoid accumulations,reduced bone-mineralization,increased incidence of fractures,premature closure of sutures,bone deformities,dwarfism,Bechterew disease,early loss of teeth,intracranial hypertension,and prolonged bone healing.[1]Extra-osseous features of HPP include seizures,[3]myopathy,[2]hepatopathy,and renal *** responds favorably to enzyme replacement therapy with asfotase-α.[1]

关键词： metabolism healing organs

Beneficiality of combined levetiracetam, clonazepam for myoclonus in MERRF requires further confirmation

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Chinese Medical Journal 2019年第5期132卷 622-623页

作者： josef finsterer Department of Neurology City Hospital Rudolfstiftung Messerli Institute Veterinary University of Vienna Vienna 1180 Austria

To the Editor: With interest, we read the article by Su et al[1] about the antiepileptic drug (AED) treatment of 17 patients with genetically confirmed myoclonic epilepsy with ragged-red fibers (MERRF) syndrome. It wa... 详细信息

关键词： combined levetiracetam myoclonus MERRF

Asymmetric parietal and temporal lobe atrophy due to the variant m.8363G>A in transfer ribonucleic acid(Lysine)

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Chinese Medical Journal 2021年第2期134卷 243-244页

作者： josef finsterer Department of Neurology City Hospital RudolfstiftungMesserli InstituteViennaAustria

To the Editor:With interest,we read the article by Xu et al[1]about a 54-year old man with a multisystem mitochondrial disorder(MID)affecting the brain,ears,and *** manifestations were attributed to the variant m.8363... 详细信息

关键词： attributed multisystem transfer

Phenotypic and genotypic peculiarities in Chinese patients with Leigh syndrome

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Chinese Medical Journal 2019年第5期132卷 626-627页

作者： josef finsterer Department of Neurology Krankenanstalt Rudolfstiftung Messerli Institute Veterinary University of Vienna Vienna 1180 Austria

To the Editor: With interest we read the article by Yu et al[1] about a retrospective study of 13 pediatric patients with Leigh syndrome from a single center in China collected over a period of 17 years. The authors concluded that patients with ophthalmoplegia, muscle weakness, ataxia, and respiratory insufficiency should be screened for mutations in genes located on the mtDNA.[1] Patients with suspected Leigh syndrome are recommended to undergo determination of cerebrospinal fluid (CSF) lactate and cerebral imaging.[1] We have the following comment and concerns.

关键词： genotypic peculiarities Chinese patients with Leigh syndrome ophthalmoplegia

Cluster headache as a manifestation of a stroke-like episode in a carrier of the MT-ND3 variant m.10158T>C

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World Journal of Clinical Cases 2020年第1期8卷 242-244页

作者： josef finsterer Neurological Department Messerli Institute

In a recent article Fu et al reported about a 52 years old female with a mitochondrial disorder due to the variant m.10158T>C in the mtDNA located gene *** study has a number of *** study would particularly profit from providing more data about multisystem disease,from providing the current medication,the cerebro-spinal fluid findings,the detailed phenotypic presentation,and the genotype of first-degree *** the index patient had experienced recurrent seizures it is crucial to know the current and previous anti-seizure medication as it may strongly determine the *** of them are mitochondrion-toxic and particularly valproic acid may exhibit fatal side *** outcome may also depend on the degree of multisystem involvement why it is crucial to prospectively investigate the patient for subclinical involvement of organs not obviously ***,the outcome of the stroke-like lesions on imaging would be interesting to *** lesions may completely disappear or may end up as white matter lesion,laminar cortical necrosis,focal atrophy,cyst,or as the so-called toenail *** is also a need of discussing more profoundly the imaging findings and their diagnostic significance and to investigate first degree relatives of the index patient clinically and *** highly interesting,the presentation of this case of a mitochondrial disorder lacks clinical and genetic data of the patient and his *** parameters,such as severity of disease,degree of progression,drugs,pathogenicity of the mutation,and multisystem involvement require a profound discussion.

关键词： Heteroplasmy mtDNA Oxidative phosphorylation Stroke-like episode

Pathogenicity of the Homoplasmic m.8701A〉 G Variant Requires Confirmation

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Chinese Medical Journal 2016年第15期129卷 1889-1890页

作者： josef finsterer Sinda Zarrouk-Mahjoub Krankenanstalt Rudolfstiftung Vienna Austria Genomics Platform Pasteur Institute of Tunis Tunis Tunisia

To the Editor： We read with interest the article by Zhu et al. about a family with dilated cardiomyopathy （dCMP） and arterial hypertension （AHT） in four members being attributed to the m.8701A〉G variant in the A... 详细信息

关键词： Variant Requires Confirmation

Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation

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Chinese Medical Journal 2016年第18期129卷 2267-2268页

作者： josef finsterer Sinda Zarrouk-Mahjoub 1Krankenanstalt Rudolfstiftung 1030 Vienna Austria Genomics Platform Pasteur Institute of Tunis 1002 Tunis Tunisia

To the Editor： With interest, we read the article by Kwon et al. about a single patient with Kearns-Sayre syndrome （KSS）, who successfully and without complications underwent peripheral nerve block for multiple mus... 详细信息

关键词： Diagnosing Kearns-Sayre Syndrome Requires

Open a senescent’s heart and look into his brain to find the Takotsubo trigger!

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Journal of Geriatric Cardiology 2016年第1期13卷 97-98页

作者： Claudia Stollberger josef finsterer Krankenanstalt Rudolfstiftung Juchgasse 25 1030 Wien Austria

With interest we read the case report of Budnik, et al.[1] about the oldest patient with Takotsubo cardiomyopathy (TTC) so far reported. We have the following comments and questions: TTC is frequently triggered by emotional or physical stress.[2] Were there any emotional or physical triggers for TTC in the presented patient? It is indicated that the patient felt chronic stress associated with her memories of World War II. Since the World War II ended more than 70 years ago, it would be interesting if any recent event exacerbated her memories.

关键词： ECG Mental stress Takotsubo cardiomyopathy

Relevance of muscle biopsy for diagnosing multifocal motor neuropathy

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Chinese Medical Journal 2014年第10期127卷 1994-1996页

作者： josef finsterer Marlies Frank 1 st Medical Department Krankenanstalt RudolfstiRung (finsterer J) 1180 Vienna Austria

Multifocal motor neuropathy （MMN） is a rare,.focal,inflammatory,demyelinating disease of the peripheral nerves with pure motor involvementJ MMN is clinically characterized by slowly progressive,asymmetric,distal,upper limb predominant weakness,in the absence of sensory disturbances） Weakness is usually multifocal and connected to a distinct motor nerve,such as the musculocutaneous nerve resulting in biceps weakness,the posterior interosseus nerve resulting in finger drop,the median,ulnar,or radial nerve resulting in dexterity problems or grip weakness,or the peroneal nerve resulting in a foot *** of clinical manifestations is between 20 and 50 years of *** prevalence of MMN is reported as 1-2 per 100 000.2 MMN is three times more frequent in men as compared to women.

关键词： immune neuropathy conduction block nerve conduction studies electromyography muscle biopsy diagnosis