Infantile neuronal ceroid lipofuscinosis: The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency

  title={Infantile neuronal ceroid lipofuscinosis: The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency},
  author={Kenichi Takano and Masayuki Shimono and Naoki Shiota and Ayako Kato and Shiho Tomioka and Akira Oka and Kousaku Ohno and Higashi Sathou},
  journal={Brain and Development},

A Short Commentary of Neuronal Ceroid Lipofuscinoses; Phenotypes inCongenital to Preschooler

This short review commentary focuses on the NCLs which might cause symptoms in children from neonate to preschooler age: CLN10 (neonatal),CLN1 (6-48 months), CLN14 (8-24 months), clN2 (1-6 years), CLn3 (4-7 years), ClN5 (4 -6 years) and CLN6 (18 months-8 years).



First‐trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

This report shows the first early prenatal diagnosis of INCL performed by fluorometric enzyme analysis and mutation analysis of the CLN1 gene.

Clinical and molecular analysis of Japanese patients with neuronal ceroid lipofuscinosis.

Data suggest that the distribution of NCL and clinical findings are similar to those of Caucasian subjects; however, prevalence of mutations in Japanese patients with NCL would be distinct from that observed in Caucasians.

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

The identification, by positional candidate methods, of defects in the palmitoyl-protein thioesterase gene in all 42 Finnish INCL patients and several non-Finnish patients is reported, which results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain of patients.

A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

Results show that rapid pre- and postnatal diagnosis can be performed with this new fluorimetric assay for PPT based on the sensitive fluorochrome 4-methylumbelliferone.

Biochemical Characterization of a Lysosomal Protease Deficient in Classical Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) and Development of an Enzyme‐Based Assay for Diagnosis and Exclusion of LINCL in HUman Specimens and Animal Models

Findings indicate that LINCL represents a lysosomal storage disorder that is characterized by the absence of a specific protease activity.

Neuronal ceroid lipofuscinoses: pathological features of bioptic specimens from 28 patients

Clinical findings and pathological features of 28 patients affected with neuronal ceroid lipofuscinoses (NCL) are reviewed, and the importance of electron microscopic examination of blood lymphocytes in these forms is outlined, particularly when combined with molecular analysis of the CLN2 or CLN3 genes.

Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1)

Eight novel INCL mutations in PPT are reported, five of which are predicted to lead to premature translational termination, thus abolishing the active site of PPT, and three will probably cause a misfolding of the nascent polypeptide.

Neuronal ceroid lipofuscinoses in childhood

Clinical, neurophysiological and neuroimaging findings in these four NCL forms are reviewed including also management and diagnostic aspects.

Reassessment of rectal approach to neuropathology in childhood

It is suggested that rectal biopsy is necessary in the various forms of Batten's disease and in the neurovisceral storage disease with supranuclear ophthalmoplegia described by Neville et al. (1973).

Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras.