Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.

Background: This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to characterize the clinical, electrophysiologic and neuroimaging phenotypes.

Methods: We performed a single-center cross sectional data collection along with retrospective medical chart review in patients with a genetic diagnosis of CLN7. This study received ethical approval by the University of Texas Southwestern Medical Center Institutional Review Board.

GABAR-PPT1 palmitoylation homeostasis controls synaptic transmission and circuitry oscillation.

The infantile neuronal ceroid lipofuscinosis, also called CLN1 disease, is a fatal neurodegenerative disease caused by mutations in the CLN1 gene encoding palmitoyl protein thioesterase 1 (PPT1). Identifying the depalmitoylation substrates of PPT1 is crucial for understanding CLN1 disease. In this study, we found that GABAR, the critical synaptic protein essential for inhibitory neurotransmission, is a substrate of PPT1.

The use of nanocarriers in treating Batten disease: A systematic review.

The neuronal ceroid lipofuscinoses, commonly known as Batten disease, are a group of lysosomal storage disorders affecting children. There is extensive central nervous system and retinal degeneration, resulting in seizures, vision loss and a progressive cognitive and motor decline. Enzyme replacement and gene therapies are being developed, and mRNA and oligonucleotide therapies are more recently being considered.

Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Background: Neuronal ceroid lipofuscinoses (NCLs) are progressive, autosomal recessive lysosomal storage disorders primarily affecting children, marked by seizures, cognitive decline, motor regression, and visual impairment. Limited genetic data exist for South Asian populations, with most studies relying on enzymatic assays or electron microscopy. This study explores the genetic spectrum of NCL and genotype-phenotype correlations in a cohort from South India.

A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review.

Neuronal ceroid lipofuscinosis type 10 (NCL10) is a rare progressive neurodegenerative disease associated with homozygous or compound heterozygous mutations in the CTSD gene encoding cathepsin D protein. It is classified as congenital, infantile, or juvenile NCL10 according to the age at onset of symptoms. Six cases of juvenile onset NCL10 (JNCL10) have been reported thus far in the literature.

[Study of a case of Juvenile neuronal ceroid lipofuscinosis due to compound heterozygous variants of PPT1 gene].

Objective: To report and analyze a case of Juvenile neuronal ceroid lipofuscinosis (NCL) due to compound heterozygous variants of PPT1 gene.

Methods: A child who was admitted to the Department of Neurology of West China Hospital of Sichuan University in April 2021 due to "intellectual decline and behavioral abnormalities for more than 5 years and movement disorder for more than 1 year" was selected as the study subject. Clinical data of the child was collected.

Adult-Onset Neuronal Ceroid Lipofuscinosis: Variant Presenting as Focal Dystonia.

Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. variants cause varied phenotypic presentations.

Case Report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia.

Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH).

Background: Recurrent non-epileptic episodes resembling paroxysmal sympathetic hyperactivity (PSH) have been observed in adolescents with Juvenile Ceroid Lipofuscinosis (CLN3-disease) and a possible association to an autonomic dysfunction has been suggested. The objective of the present study was to investigate the dynamics of the autonomic activity up to, during, and in the time after individual attacks. We include all seven suitable CLN3 patients in Denmark ≥ 15 years of age.

Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses.

Glucose is the brain's main fuel source, used in both energy and molecular production. Impaired glucose metabolism is associated with adult and pediatric neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), GLUT1 deficiency syndrome, and progressive myoclonus epilepsies (PMEs). PMEs, a group of neurological disorders typical of childhood and adolescence, account for 1% of all epileptic diseases in this population worldwide.

[Adult and pediatric thesaurismosis: Lysosomal, lipid and glycogen storage diseases].

Thesaurismosis or storage diseases are rare genetic disorders due to an abnormal accumulation of an organic compound or its metabolite within cells. These conditions are either secondary to a defect in catabolism caused by enzymatic dysfunction or to a deficiency in transport proteins. They encompass lysosomal storage diseases, lipid storage diseases or dyslipidemias, and glycogen storage disorders or glycogenoses.

TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells.

Mutations in the lysosomal membrane protein CLN3 cause Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). Activation of the lysosomal ion channel TRPML1 has previously been shown to be beneficial in several neurodegenerative disease models. Here, we tested whether TRPML1 activation rescues disease-associated phenotypes in CLN3-deficient retinal pigment epithelial (ARPE-19 CLN3-KO) cells.