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Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL

K E Wisniewski1, F Connell, W Kaczmarski

  • 1Department of Pathological Neurobiology; New York State Institute for Basic Research in Developmental Disabilities; Staten Island 10314, USA.

Pediatric Neurology
|April 16, 1998
PubMed

Insights

Late infantile neuronal ceroid-lipofuscinosis (LINCL) can present atypically. Some cases diagnosed as LINCL show infantile NCL (INCL) characteristics, suggesting later-onset INCL variants.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Late infantile neuronal ceroid-lipofuscinosis (LINCL) typically presents with dementia, blindness, and seizures between ages 2-4.
  • Electron microscopy of LINCL tissues shows characteristic curvilinear profiles.
  • A subset of LINCL cases exhibit atypical clinical or pathological findings.

Purpose of the Study:

  • To reevaluate atypical LINCL cases using recent advancements in NCL biochemistry and genetics.
  • To investigate five atypical LINCL cases with features suggestive of infantile NCL (INCL).

Main Methods:

  • Analysis of clinical data from 122 LINCL cases (81 families).
  • Electron microscopy to examine tissue inclusions.
  • Biochemical assays for urinary subunit c levels and palmitoyl-protein thioesterase activity.

Main Results:

  • Five atypical LINCL cases showed granular inclusions (typical of INCL) on electron microscopy.
  • These five cases lacked elevated urinary subunit c levels (typical of LINCL).
  • Palmitoyl-protein thioesterase activity was deficient (<10% normal) in these five cases, indicating INCL.

Conclusions:

  • The findings suggest these five cases represent later-onset INCL, not LINCL variants.
  • Palmitoyl-protein thioesterase deficiency is not limited to infantile-onset cases.
  • Milder forms of INCL may arise from less severe mutations.

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