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  • Boesch, Sylvia  (6)
Type of Medium
  • 1
    Language: English
    In: Cephalalgia, May 2018, Vol.38(6), pp.1167-1176
    Description: Background Familial hemiplegic migraine (FHM) is a rare, genetic form of migraine with aura. The severity of the aura imposes an effective prophylaxis that is currently based on standard anti-migraine drugs. To this concern, only short-term reports are currently available. Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic. Medical history, general and neurological examination as well as therapeutic approaches were recorded regularly on a routine basis for an average period of 13 years (range 9–15 years). Brain imaging studies and EEG data were also collected. Results Our long-term follow-up revealed that ictal manifestations, which usually improve after the adolescence, may reoccur later in the adulthood. Permanent neurological signs as assessed by means of clinical evaluation as well as follow-up MRIs, EEGs and neuropsychological testing remained stable. Interval therapy with non-selective calcium antagonists reduced the burden of migraine attacks and was well tolerated in the long term.
    Keywords: Familial Hemiplegic Migraine ; Cacna1a Gene ; Long-Term Treatment ; Migraine Prophylaxis ; Calcium Antagonists ; Clinical Phenotype ; Medicine
    ISSN: 0333-1024
    E-ISSN: 1468-2982
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  • 2
    Language: English
    In: Clinical Autonomic Research, 2018, Vol.28(3), pp.341-346
    Description: To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10286-018-0504-4 Byline: Elisabetta Indelicato (1), Alessandra Fanciulli (1), Jean Pierre Ndayisaba (1), Wolfgang Nachbauer (1), Roberta Granata (1), Julia Wanschitz (1), Michaela Wagner (2,3), Elke R. Gizewski (2,3), Werner Poewe (1), Gregor K. Wenning (1), Sylvia Boesch (1) Keywords: Spinocerebellar ataxia type 2; Olivo-ponto-cerebellar atrophy; Cardiovascular autonomic function testing; Orthostatic hypotension; Skin sympathetic reflex Abstract: Purpose To assess whether autonomic failure belongs to the clinical spectrum of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant genetic disorder showing progressive cerebellar and brainstem dysfunction. Methods We evaluated cardiovascular autonomic function in 8 patients with SCA2 and 16 age- and gender-matched healthy controls. Other autonomic domains were examined through standardized questionnaires and by testing the skin sympathetic reflex. Results Patients with SCA2 showed normal responses to cardiovascular autonomic function tests, with the exception of lower baroreflex sensitivity upon standing compared to controls. In questionnaires, 7 out of 8 patients reported bladder disturbances, while 3 out of 6 tested patients had no skin sympathetic reflex. Conclusions We did not observe clinically overt cardiovascular autonomic failure in patients with SCA2. Other autonomic domains (i.e., bladder and sudomotor function) may be affected in the disease. Author Affiliation: (1) 0000 0000 8853 2677, grid.5361.1, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria (2) 0000 0000 8853 2677, grid.5361.1, Department of Neuroradiology, Innsbruck Medical University, Innsbruck, Austria (3) 0000 0000 8853 2677, grid.5361.1, Neuroimaging Research Core Facility, Innsbruck Medical University, Innsbruck, Austria Article History: Registration Date: 16/01/2018 Received Date: 15/11/2017 Accepted Date: 16/01/2018 Online Date: 12/02/2018 Article note: Elisabetta Indelicato and Alessandra Fanciulli share first authorship. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10286-018-0504-4) contains supplementary material, which is available to authorized users.
    Keywords: Spinocerebellar ataxia type 2 ; Olivo-ponto-cerebellar atrophy ; Cardiovascular autonomic function testing ; Orthostatic hypotension ; Skin sympathetic reflex
    ISSN: 0959-9851
    E-ISSN: 1619-1560
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  • 3
    Language: English
    In: neurogenetics, 2017, Vol.18(4), pp.195-205
    Description: Combined and complex dystonias are heterogeneous movement disorders combining dystonia with other motor and/or systemic signs. Although we are beginning to understand the diverse molecular causes of these disease entities, clinical pattern recognition and conventional genetic workup achieve an etiological diagnosis only in a minority of cases. Our goal was to provide a window into the variable genetic origins and distinct clinical patterns of combined/complex dystonia more broadly. Between August 2016 and January 2017, we applied whole-exome sequencing to a cohort of nine patients with varied combined and/or complex dystonic presentations, being on a diagnostic odyssey. Bioinformatics analyses, co-segregation studies, and sequence-interpretation algorithms were employed to detect causative mutations. Comprehensive clinical review was undertaken to define the phenotypic spectra and optimal management strategies. On average, we observed a delay in diagnosis of 23 years before whole-exome analysis enabled determination of each patient’s genetic defect. Whereas mutations in ACTB , ATP1A3 , ADCY5 , and SGCE were associated with particular phenotypic clues, trait manifestations arising from mutations in PINK1 , MRE11A , KMT2B , ATM , and SLC6A1 were different from those previously reported in association with these genes. Apart from improving counseling for our entire cohort, genetic findings had actionable consequences on preventative measures and therapeutic interventions for five patients. Our investigation confirms unique genetic diagnoses, highlights key clinical features and phenotypic expansions, and suggests whole-exome sequencing as a first-tier diagnostic for combined/complex dystonia. These results might stimulate independent teams to extend the scope of agnostic genetic screening to this particular phenotypic group that remains poorly characterized through existing studies.
    Keywords: Combined dystonia ; Complex dystonia ; Exome ; Mutation ; Genetic heterogeneity
    ISSN: 1364-6745
    E-ISSN: 1364-6753
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  • 4
    Language: English
    In: Journal of the Neurological Sciences, 15 March 2013, Vol.326(1-2), pp.75-82
    Description: Presenile dementia may be caused by a variety of different genetic conditions such as familial Alzheimer's disease, prion disease as well as several hereditary metabolic disorders including adult onset neuronal ceroid lipofuscinosis. We report a multigenerational family with autosomal dominant presenile dementia harboring a cerebellar phenotype. Longitudinal clinical work-up in affected family members revealed ataxia accompanied by progressive cognitive decline, rapid loss of global cognition, memory, visuospatial and frontal-executive functions accompanied by progressive motor deterioration and early death. Linkage analysis and exome sequencing identified the p.S170F mutation of Presenilin 1 in all affected individuals, which is known to be associated with very early onset Alzheimer's disease. Additional search for potentially modifying variants revealed in all affected individuals of the third generation a paternally inherited variant p.A58V (rs17571) of Cathepsin D which is considered an independent risk factor for Alzheimer's disease. Involvement of cerebellar and brainstem structures leading to functional decortication in addition to rapid progressive presenile dementia in this PSEN1 family may therefore indicate an epistatic effect of the p.A58V Cathepsin D variant on the deleterious course of this disease.
    Keywords: Early Onset Alzheimer'S Disease ; Adult Neuronal Ceroid Lipofuscinosis ; Exome Sequencing ; Presenilin1 ; Ataxia ; Cathepsin D ; Medicine
    ISSN: 0022-510X
    E-ISSN: 1878-5883
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  • 5
    Language: English
    In: Parkinsonism and Related Disorders, May 2019, Vol.62, pp.210-214
    Description: encodes nesprin-1, a scaffold protein which is involved in the binding between cytoskeleton, nuclear envelope and other subcellular compartments. In 2007, recessive truncating mutations have been linked to a genetic form of pure cerebellar ataxia with adult onset and mild phenotype. Subsequent reports described a number of patients with -ataxia and widespread neurological involvement including features of motor neuron disease. Recently, heterozygote missense mutations have been associated with muscular disorders, such as Emery-Dreifuss muscular dystrophy, arthrogryposis multiplex congenita and dilated cardiomyopathy. Herein we describe novel genotypic and phenotypic findings in an independent cohort of 5 patients with -ataxia referring to the Department of Neurology of the Innsbruck Medical University and performed a review of the related literature. We report 3 novel mutations and describe for the first time myocardial involvement in a patient with a complicated spastic-ataxic phenotype and C-terminal mutation. In the literature, mutations associated with additional motor neuron signs spanned over the entire gene, but patients with a particularly severe phenotype and premature death bore C-terminal mutations. Our findings support a genotype-phenotype correlation in -ataxia and suggest the need for a systematic cardiologic evaluation in the setting of complicated spastic-ataxia phenotypes.
    Keywords: Syne1 ; Autosomal Recessive Ataxia ; Spastic Ataxia ; Genotype-Phenotype Correlation ; Medicine
    ISSN: 1353-8020
    E-ISSN: 1873-5126
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  • 6
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