Journal of Inherited Metabolic Disease

, Volume 33, Issue 4, pp 315–329

Clinical aspects of neuropathic lysosomal storage disorders


    • Department of Internal MedicineUniversidade Federal do Rio Grande do Sul
    • Medical Genetics ServiceHospital de Clinicas de Porto Alegre
  • Maria Mercedes Villanueva
    • Medical Genetics ServiceHospital de Clinicas de Porto Alegre
  • Carolina F. Moura de Souza
    • Medical Genetics ServiceHospital de Clinicas de Porto Alegre
  • Cristina B. Oliveira Netto
    • Medical Genetics ServiceHospital de Clinicas de Porto Alegre
LSDs with Neurologic Involvement

DOI: 10.1007/s10545-010-9079-5

Cite this article as:
Jardim, L.B., Villanueva, M.M., Souza, C.F.M. et al. J Inherit Metab Dis (2010) 33: 315. doi:10.1007/s10545-010-9079-5


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.

Supplementary material

10545_2010_9079_MOESM1_ESM.doc (610 kb)
ESM 1(DOC 609 kb)
10545_2010_9079_MOESM2_ESM.jpg (1006 kb)
Fig. E-1A cherry-red spot in the macula (GM2 gangliosidosis, Tay-Sachs disease) (JPEG 1005 kb)
10545_2010_9079_MOESM3_ESM.jpg (48 kb)
Fig. E-2GM1 gangliosidosis patient showing a macroglossia, hypertelorism, epicanthus and coarse facial features; and b lumbar kyphosis due to dysplastic vertebrae (JPEG 48 kb)
10545_2010_9079_MOESM4_ESM.jpg (43 kb)
Fig. E-3Some magnetic resonance imaging (MRI) patterns found in patients with lysosomal storage disorders. a Hypointense thalami and diffuse white-matter (WM) abnormality in a patient with GM1 gangliosidosis. b WM abnormalities affecting the occipital, periventricular, and central WM and sparing U fibers in a patient with the juvenile form of metachromatic leukodystrophy (MLD). c Global atrophy and high signal intensity on occipital periventricular WM in an infantile patient with Krabbe disease. d Cerebral atrophy in a patient with infantile neuronal ceroid-lipofuscinosis (INCL) (JPEG 42 kb)

Copyright information

© SSIEM and Springer 2010