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Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

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An Erratum to this article was published on 14 August 2014

Abstract

Cellular mechanism leading to Parkinson Disease (PD) is still unknown, but impairment of lysosomal degradation of aberrant proteins seems to play a crucial role. The most known lysosomal disease associated with PD is Gaucher Disease. However, actually a number of different lysosomal disorders have been linked with PD. We report three families with Arylsulphatase A partial deficit in which we can find a high recurrence of parkinsonism among the siblings. The pedigree members show as well some atypical signs and symptoms among the PD spectrum features. Arylsulphatase A plays a crucial role in protein degradation. Even if a possibly casual association cannot be excluded, it can be speculated that Arylsulphatase A partial deficit can act as a cofactor for neurodegeneration in subjects with other genetic or environmental predispositions to PD or to other neurodegenerative disease.

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Conflicts of interest

Authors have nothing to disclosure. Statement: as corresponding author, I can personally guarantee that I asked all the patients for their consent and they all agreed to be video-recorded.

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The study has been approved by the Institution Review Board.

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Authors and Affiliations

  1. Department of Biomedical and Neuromotor Sciences, (DIBINEM), University of Bologna, Bologna, Italy

    Elena Antelmi, Giovanni Rizzo, Margherita Fabbri, Sabina Capellari, Cesa Scaglione & Paolo Martinelli

  2. IRCCS, Institute of Neurological Sciences, Bologna, Italy

    Sabina Capellari & Cesa Scaglione

Authors
  1. Elena Antelmi
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  2. Giovanni Rizzo
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  3. Margherita Fabbri
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  4. Sabina Capellari
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  5. Cesa Scaglione
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  6. Paolo Martinelli
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Corresponding author

Correspondence to Paolo Martinelli.

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Supplementary material 1 (WMV 11419 kb)

Segment 1 (family 1, patient II, 3): neurological evaluation shows resting tremor of right limbs, in particular of the big toe, standing and slow tremor of the right leg, definable as pseudo-orthostatic tremor, diffuse bradykinesia, mainly on right side, and reduced right arm swing.Segment 2 (family 2, patient II, 7): neurological evaluation shows low volume speech, diffuse bradykinesia, increased tone of plastic type to all the extremities predominant on the right side, bilateral postural tremor (not shown), resting tremor of the right arm, orthostatic tremor, barely visible and of high frequency, and gait with reduced right synkinesias.

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Antelmi, E., Rizzo, G., Fabbri, M. et al. Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?. J Neurol 261, 1803–1809 (2014). https://doi.org/10.1007/s00415-014-7425-5

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  • DOI: https://doi.org/10.1007/s00415-014-7425-5

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