Clinical aspects of neuropathic lysosomal storage disorders
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The purpose of this review is to describe neurological phenotypes associated with lysosomal storage diseases (LSDs), focusing on features arising from primary neuronal involvement. Clinical presentation, progression and genetic data, are discussed in detail in Part 2, the electronic material. Main features are summarized in Part 1. Insights gained from several observational studies are discussed. Prospective studies of the natural history of most neuronopathic LSDs have been hampered by the rarity of these conditions and the short survival of affected patients. Increasingly, longitudinal observations relating to neurological manifestations are being reported. Better clinical studies are necessary, including repeated measurements of disease progression to facilitate the development of sensitive scoring systems and appropriate counseling of affected individuals and their families. Ideally, clinical studies should involve a large cohort. As treatment becomes available, knowledge of disease expression and factors that influence the phenotype may enable critical assessment of therapeutic outcomes. It is hoped that increased familiarity with the clinical expression of individual LSDs will allow early diagnosis, so families at risk are given options to consider during future pregnancies. Early diagnosis also permits the introduction of timely intervention, to favoring improved outcome in cases that are potentially treatable.
We are indebted to the patients and their families who made this study possible. We also thank Dr. Roberto Giugliani and Dr. Leonardo Vedolin for MRI and patient pictures, and Dr. Gregory Pastores for critical reading of the manuscript. This work was supported by Brazilian funding agencies (CAPES, FAPERGS, FIPE-HCPA, CNPq). Prof. Jardim is supported by CNPq.
None declared. As this is a review article, ethics approval was not required.
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