Matthis Synofzik


Country: Germany


  1. Synofzik M. [What happens in the brain of my patients? Neuroimaging and neurogenetics as ethical challenges in medicine]. Dtsch Med Wochenschr. 2007;132:2646-9 pubmed
  2. Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg E, Deininger N, et al. The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature. Parkinsonism Relat Disord. 2018;: pubmed publisher
    ..These findings have important consequences of the work-up and counseling of SCA21/ATX-TMEM240 patients. ..
  3. Synofzik M, Schule R, Schulze M, Gburek Augustat J, Schweizer R, Schirmacher A, et al. Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis. 2014;9:57 pubmed publisher
    ..In contrast to previous reports, STUB1-ataxia can start even above age 40 years, and neither hypogonadism nor prominent cognitive impairment are obligatory features. ..
  4. Synofzik M, Nemeth A. Recessive ataxias. Handb Clin Neurol. 2018;155:73-89 pubmed publisher
    ..Based on the frequency data, phenotypes, and the cost-effectiveness of recent next-generation sequencing approaches, we conclude with a diagnostic algorithm for the workup of patients with unexplained SCAR. ..
  5. Wilke C, Bender F, Hayer S, Brockmann K, Schols L, Kuhle J, et al. Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study. J Neurol. 2018;265:1618-1624 pubmed publisher
    ..g. supporting the differentiation of MSA-C from SAOA, and indicating neuronal damage in repeat-expansion SCAs. ..
  6. Blauwendraat C, Wilke C, Jansen I, Schulte C, Simón Sánchez J, Metzger F, et al. Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Neurobiol Aging. 2016;37:208.e11-208.e17 pubmed publisher
    ..Variants in AD genes were also associated with rare phenotypes such as frontal AD or primary progressive aphasia, demonstrating the need to screen AD genes in frontotemporal dementia-like phenotypes. ..
  7. Wilke C, Deuschle C, Rattay T, Maetzler W, Synofzik M. Total tau is increased, but phosphorylated tau not decreased, in cerebrospinal fluid in amyotrophic lateral sclerosis. Neurobiol Aging. 2015;36:1072-4 pubmed publisher
    ..Thus, CSF p-tau by itself does not appear a suitable diagnostic biomarker for ALS, whereas CSF t-tau is a (probably unspecific) marker of the neuronal degeneration in ALS. ..
  8. Srulijes K, Mack D, Klenk J, Schwickert L, Ihlen E, Schwenk M, et al. Association between vestibulo-ocular reflex suppression, balance, gait, and fall risk in ageing and neurodegenerative disease: protocol of a one-year prospective follow-up study. BMC Neurol. 2015;15:192 pubmed publisher
    ..Results will improve our understanding of the influence of the interplay between eye, head and body movements on falls in geriatric high-risk cohorts. ..
  9. Smets K, Duarri A, Deconinck T, Ceulemans B, van de Warrenburg B, Züchner S, et al. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy. BMC Med Genet. 2015;16:51 pubmed publisher
    ..We identified a de novo KCND3 mutation causing the most marked change in Kv4.3's channel properties reported so far, which correlated with a severe and unique spinocerebellar ataxia (SCA) type 19/22 disease phenotype. ..

More Information


  1. Synofzik M, Harmuth F, Stampfer M, Müller vom Hagen J, Schöls L, Bauer P. NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening. J Neurol. 2015;262:2557-63 pubmed publisher
    ..This method does not require having considered NP-C during differential diagnosis, but allows identification of NP-C as part of the default analysis. ..
  2. Synofzik M, Helbig K, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, et al. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. Eur J Hum Genet. 2018;26:1623-1634 pubmed publisher
    ..Functional studies allow identifying ITPR1 variants with large impact, likely disease-causing. Such functional confirmation is warranted for inherited ITPR1 variants before making a SCA29 diagnosis. ..
  3. Synofzik M, Maetzler W. [Successful aging: what can neurology and geriatrics contribute?]. Nervenarzt. 2015;86:475-80 pubmed publisher
    ..Or, in a nutshell, geriatrics starts right in the middle of medical care. ..
  4. Wilke C, Gillardon F, Deuschle C, Dubois E, Hobert M, Müller vom Hagen J, et al. Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease. Curr Alzheimer Res. 2016;13:654-62 pubmed
    ..Blood progranulin levels thus do not reliably predict central nervous progranulin levels and their response to future progranulin-increasing therapeutics. ..
  5. Synofzik M, Fleszar Z, Schols L, Just J, Bauer P, Torres Martin J, et al. Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools. J Neurol. 2016;263:1911-8 pubmed publisher
    ..While the original SI showed the greatest sensitivity, both tools reliably aided identification of patients with unexplained EOA who warranted further investigation for NP-C. ..
  6. Kraus E, Rommel N, Stoll L, Oettinger A, Vogel A, Synofzik M. Validation and Psychometric Properties of the German Version of the SWAL-QOL. Dysphagia. 2018;33:431-440 pubmed publisher
    ..69]) and test-retest reliability (Spearman's rho ≥ 0.68 for all domains; ICC > 0.8 for all domains). The G-SWAL-QOL is a valid and reliable measuring tool for dysphagia-specific quality of life in German-speaking persons. ..
  7. Wilke C, Pomper J, Biskup S, Puskás C, Berg D, Synofzik M. Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature. J Neurol. 2016;263:558-74 pubmed publisher
  8. Synofzik M, Otto M, Ludolph A, Weishaupt J. [Genetic architecture of amyotrophic lateral sclerosis and frontotemporal dementia : Overlap and differences]. Nervenarzt. 2017;88:728-735 pubmed publisher
  9. Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, et al. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain. 2016;139:1378-93 pubmed publisher
    ..The disease course in this multisystemic neurodegenerative disease can be fatal, including premature death due to respiratory dysfunction. With a relative frequency of ∼5%, SYNE1 is one of the more common recessive ataxias worldwide. ..
  10. Synofzik M, Maetzler W, Grehl T, Prudlo J, vom Hagen J, Haack T, et al. Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging. 2012;33:2949.e13-7 pubmed publisher
    ..Because the pathogenic mechanism of UBQLN2 mutations is not limited to its PXX region, UBQLN2 screening in neurodegenerative patients should not be limited to this region. ..
  11. Synofzik M, Vosgerau G, Lindner A. Me or not me--an optimal integration of agency cues?. Conscious Cogn. 2009;18:1065-8 pubmed publisher
    ..We here argue that this framework could allow integrating the findings of Moore and colleagues and other recent agency studies into a comprehensive picture of the sense of agency and its pathological disruptions. ..
  12. Thal D, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, et al. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. Int J Mol Sci. 2015;16:25050-66 pubmed publisher
  13. Hayer S, Deconinck T, Bender B, Smets K, Zuchner S, Reich S, et al. STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. Orphanet J Rare Dis. 2017;12:31 pubmed publisher
  14. Synofzik M, Haack T, Kopajtich R, Gorza M, Rapaport D, Greiner M, et al. Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. Am J Hum Genet. 2014;95:689-97 pubmed publisher
    ..This complements findings from mice in which knockout of Dnajc3 leads to diabetes and modifies disease in a neurodegenerative model of Marinesco-Sjögren syndrome. ..
  15. Wilke C, Baets J, De Bleecker J, Deconinck T, Biskup S, Hayer S, et al. Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes. Neurobiol Aging. 2018;62:244.e9-244.e13 pubmed publisher
  16. Synofzik M, Müller Vom Hagen J, Haack T, Wilhelm C, Lindig T, Beck Wödl S, et al. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. Orphanet J Rare Dis. 2014;9:24 pubmed publisher
    ..Finally, our findings show that brain atrophy might be more common in PRPS1-disorders than previously thought. ..
  17. Synofzik M, Fernández Santiago R, Maetzler W, Schols L, Andersen P. The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2010;81:764-7 pubmed publisher
    ..This pedigree shows a highly homogenous phenotype which closely resembles the typical phenotype of sporadic ALS, thus implicating comparable disease pathology of G93A SOD1 ALS and sporadic ALS. ..
  18. Synofzik M, Vosgerau G, Newen A. Beyond the comparator model: a multifactorial two-step account of agency. Conscious Cogn. 2008;17:219-39 pubmed
    ..Our framework, however, is able to provide a unified account for the sense of agency for both actions and thoughts. ..