Lafora disease is a lethal disorder of adolescence, characterize by progressive myoclonus epilepsy and neurodegeneration, which is driven by its pathological hallmark, the [cib.csic.es]

Abstract Laforin is a dual specificity protein phosphatase involved in Lafora disease (LD), a fatal form of progressive myoclonus epilepsy characterized by neurodegeneration [ncbi.nlm.nih.gov]

Description The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between [ncbi.nlm.nih.gov]

neurodegeneration. [mendelian.co]

Emerging evidence points to an important role for mitochondrial dysfunction in the pathogenesis and progression of LSD-associated neurodegeneration. [medworm.com]

While each has unique features, the common and predominant feature is progressive neurodegeneration and premature death. [ncbi.nlm.nih.gov]

Due to these abnormalities in cell physiology, the individuals affected by types C and D begin to experience progressive neurodegeneration typically at the age of two. [embryo.asu.edu]

While each has unique features, the common and predominant feature is progressive neurodegeneration and premature death. [ncbi.nlm.nih.gov]

[…] key future directions for research on neuronal injury and neurodegeneration relevant to neuronal brain pathologies. [link.springer.com]

Mucopolysaccharidosis type 1H (MPS1H), also known as Hurler syndrome, Hurler's disease or gargoylism, is the most severe form of mucopolysaccharidosis type 1. MPS1H presents as a multisystem disorder in the early childhood. Most important manifestation is developmental delay which becomes evident by the end of first[…] [symptoma.com]

The childhood form of the disease is quite devastating as the primary damage is of the form of a progressive neurodegeneration with symptoms that expand from mild to severe [ald.org.nz]

This form of ALD usually progresses rapidly, causes neurodegeneration, and results in death in infancy or young childhood. [ourdailybreadbr.com]

Menkes disease is an X-linked genetic disorder of copper transport that results in death from severe progressive neurodegeneration by the age of 3 years. [ncbi.nlm.nih.gov]

Following progressive neurodegeneration, death occurred at 3 years of age. The prognosis in Menkes disease is dependent on early copper-histidine therapy. [ncbi.nlm.nih.gov]

Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations. [ncbi.nlm.nih.gov]

Type A NPD is a fatal disorder in young children characterized by failure to thrive, hepatosplenomegaly and progressive neurodegeneration resulting in death by age three. [symptoma.com]

The disease is characterized by hepatosplenomegaly, failure to thrive, and rapidly progressive neurodegeneration. Death occurs by age 2 or 3 yr. [msdmanuals.com]

neurodegeneration. [ncbi.nlm.nih.gov]

Ataxia-telangiectasia (A-T) is a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, a high risk of cancer and immunodeficiency. [ncbi.nlm.nih.gov]

The major clinical feature of ataxia telangiectasia (A-T) is severe progressive neurodegeneration with onset in infancy. [ncbi.nlm.nih.gov]

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by progressive neurodegeneration, immunodeficiency, susceptibility to cancer, genomic instability [ncbi.nlm.nih.gov]

Based on the age of onset and rate of progression, individuals with PKAN may be classified as having classic or atypical forms… PLAN PLAN (PLA2G6-associated neurodegeneration [nbiacure.org]

Clinical description NBIA can present as early onset with rapid progression: classic pantothenate kinase-associated neurodegeneration (PKAN), infantile neuroaxonal dystrophy [orpha.net]

Abstract Aceruloplasminemia is characterized by progressive neurodegeneration with brain iron accumulation due to the complete lack of ceruloplasmin ferroxidase activity caused [doi.org]

CONCLUSIONS:: We conclusively show that recessive FBXO7 mutations cause progressive neurodegeneration with extrapyramidal and pyramidal system involvement, delineating a novel [moh-it.pure.elsevier.com]

Conclusions: We conclusively show that recessive FBXO7 mutations cause progressive neurodegeneration with extrapyramidal and pyramidal system involvement, delineating a novel [neurology.org]