"Kufs disease" from_date:2012

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accumulation of lipofuscin can be challenging. Mutation of CLN6 has emerged as the most important cause of recessive Kufs disease but, remarkably, is also responsible for variant late infantile ceroid lipofuscinosis. Here we provide a detailed description of Kufs disease due to CLN6 pathogenic variants. We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families. Mean age of onset was 28 years (range 12-51) with bimodal peaks

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery. Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring centers as ANCL. Clinical

Brain imaging in Kufs disease type B: case reports The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF. The neuroradiological characteristics of this uncommon disease have not yet been outlined. We hereby report the brain MRI features

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs Disease. We sought to identify the molecular basis of the autosomal dominant form of Kufs disease, an adult onset form of neuronal ceroid lipofuscinosis. We used a combination of classic linkage analysis and Next Generation Sequencing to map and identify mutations in DNAJC5 in a total of three families. We analyzed the clinical , myoclonus, ataxia, speech deterioration, dementia, and premature death. A few individuals also exhibited parkinsonism. DNAJC5, which encodes the cysteine string protein (CSPα), a presynaptic protein implicated in neurodegeneration, causes autosomal dominant Kufs disease. The leucine residues at positions 115 and 116 are hotspots for mutations and result in a homogeneous phenotype of progressive myoclonus

siblings, which we suggested could be candidate loci for a recessive genetic lesion underlying the early onset AD in these cases. We have now performed exome sequencing in one of these siblings and identified the potential cause of disease: the CTSF c.1243G>A:p.Gly415Arg mutation in homozygosity. Biallelic mutations in this gene have been shown to cause Type B Kufs disease, an adult-onset neuronal ceroid

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia (FTD). Genetic screening in the ANCL

erythematosus * * Sjögren syndrome * * Arteriovenous malformation * * Carotid hypoplasia Autoimmune causes are as follows: * * Rasmussen chronic encephalitis * * Multiple sclerosis * * Anti-GluR3 or anti-NMDA-GluR-Epsilon 2 antibodies Genetic causes are as follows: * * Alpers disease * * Kufs disease * * Leigh syndrome and cytochrome C

erythematosus * * Sjögren syndrome * * Arteriovenous malformation * * Carotid hypoplasia Autoimmune causes are as follows: * * Rasmussen chronic encephalitis * * Multiple sclerosis * * Anti-GluR3 or anti-NMDA-GluR-Epsilon 2 antibodies Genetic causes are as follows: * * Alpers disease * * Kufs disease * * Leigh syndrome and cytochrome C

erythematosus * * Sjögren syndrome * * Arteriovenous malformation * * Carotid hypoplasia Autoimmune causes are as follows: * * Rasmussen chronic encephalitis * * Multiple sclerosis * * Anti-GluR3 or anti-NMDA-GluR-Epsilon 2 antibodies Genetic causes are as follows: * * Alpers disease * * Kufs disease * * Leigh syndrome and cytochrome C

erythematosus * * Sjögren syndrome * * Arteriovenous malformation * * Carotid hypoplasia Autoimmune causes are as follows: * * Rasmussen chronic encephalitis * * Multiple sclerosis * * Anti-GluR3 or anti-NMDA-GluR-Epsilon 2 antibodies Genetic causes are as follows: * * Alpers disease * * Kufs disease * * Leigh syndrome and cytochrome C

storage can occur in many cell types, but the CNS and PNS are particularly vulnerable to LSDs and NCLs, being affected in two-thirds of these disorders. Most LSDs are inherited in an autosomal recessive manner, with the exception of X-linked Hunter disease, Fabry disease and Danon disease, and a variant type of adult NCL (Kuf disease). This Review provides a summary of known LSDs, and the pathways