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@ARTICLE{Thal:138204,
      author       = {Thal, Dietmar R and Züchner, Stephan and Gierer, Stephan
                      and Schulte, Claudia and Schöls, Ludger and Schüle,
                      Rebecca and Synofzik, Matthis},
      title        = {{A}bnormal {P}araplegin {E}xpression in {S}wollen
                      {N}eurites, τ- and α-{S}ynuclein {P}athology in a {C}ase
                      of {H}ereditary {S}pastic {P}araplegia {SPG}7 with an
                      {A}la510{V}al {M}utation.},
      journal      = {International journal of molecular sciences},
      volume       = {16},
      number       = {10},
      issn         = {1422-0067},
      address      = {Basel},
      publisher    = {Molecular Diversity Preservation International},
      reportid     = {DZNE-2020-04526},
      pages        = {25050-25066},
      year         = {2015},
      abstract     = {Mutations in the SPG7 gene are the most frequent cause of
                      autosomal recessive hereditary spastic paraplegias and
                      spastic ataxias. Ala510Val is the most common SPG7 mutation,
                      with a frequency of up to $1\%$ in the general population.
                      Here we report the clinical, genetic, and neuropathological
                      findings in a homozygous Ala510Val SPG7 case with spastic
                      ataxia. Neuron loss with associated gliosis was found in the
                      inferior olivary nucleus, the dentate nucleus of the
                      cerebellum, the substantia nigra and the basal nucleus of
                      Meynert. Neurofilament and/or paraplegin accumulation was
                      observed in swollen neurites in the cerebellar and cerebral
                      cortex. This case also showed subcortical τ-pathology in an
                      unique distribution pattern largely restricted to the
                      brainstem. α-synuclein containing Lewy bodies (LBs) were
                      observed in the brainstem and the cortex, compatible with a
                      limbic pattern of Braak LB-Disease stage 4. Taken together,
                      this case shows that the spectrum of pathologies in SPG7 can
                      include neuron loss of the dentate nucleus and the inferior
                      olivary nucleus as well as neuritic pathology. The
                      progressive supranuclear palsy-like brainstem predominant
                      pattern of τ pathology and α-synuclein containing Lewy
                      bodies in our SPG7 cases may be either coincidental or
                      related to SPG7 in addition to neuron loss and neuritic
                      pathology.},
      keywords     = {ATPases Associated with Diverse Cellular Activities / Aged
                      / Basal Nucleus of Meynert: pathology / Cerebellar Nuclei:
                      pathology / Gene Frequency: genetics / Gliosis: genetics /
                      Humans / Intellectual Disability: genetics / Intellectual
                      Disability: pathology / Lewy Bodies: pathology / Male /
                      Metalloendopeptidases: biosynthesis / Metalloendopeptidases:
                      genetics / Muscle Spasticity: genetics / Muscle Spasticity:
                      pathology / Neurites: metabolism / Neurofibrillary Tangles:
                      pathology / Neurons: pathology / Olivary Nucleus: pathology
                      / Optic Atrophy: genetics / Optic Atrophy: pathology /
                      Spastic Paraplegia, Hereditary: genetics / Spastic
                      Paraplegia, Hereditary: pathology / Spinocerebellar Ataxias:
                      genetics / Spinocerebellar Ataxias: pathology / Substantia
                      Nigra: pathology / alpha-Synuclein: metabolism / tau
                      Proteins: metabolism / SNCA protein, human (NLM Chemicals) /
                      alpha-Synuclein (NLM Chemicals) / tau Proteins (NLM
                      Chemicals) / Metalloendopeptidases (NLM Chemicals) / SPG7
                      protein, human (NLM Chemicals) / ATPases Associated with
                      Diverse Cellular Activities (NLM Chemicals)},
      cin          = {AG Berg ; AG Berg / AG Schöls / AG Maetzler},
      ddc          = {540},
      cid          = {I:(DE-2719)5000055 / I:(DE-2719)5000005 /
                      I:(DE-2719)5000024},
      pnm          = {344 - Clinical and Health Care Research (POF3-344) / 345 -
                      Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-344 / G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:26506339},
      pmc          = {pmc:PMC4632789},
      doi          = {10.3390/ijms161025050},
      url          = {https://pub.dzne.de/record/138204},
}