Introduction

Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, comprise eight recessive and one dominant form, as well as several rare and atypical variants (Table 1) that are as yet unclassified. They are characterized by intralysosomal accumulations of ceroid lipopigments as the hallmark, which can be detected as granular osmiophilic deposits (GRODs), or curvilinear (CV), fingerprint (FP), or rectilinear (RL) profiles by electron microscopy (EM). In typical cases, GRODs are present in NCL1, CV in NCL2, and FP in NCL3. However, the profiles can vary, and mixed profiles can occur.[1]

The incidence of NCLs has been estimated to be approximately 0.1-7 in 100,000 births in the general population, and as high as 1 in 12,500 births as a result of founder effects in genetically isolated populations such as the Finnish population.1-1-1 With this number still growing, NCLs are becoming one of the most common neurode-generative disorders of childhood.[2]

Although efforts at gene therapy, either in vivo or ex vivo, and protein replacement are making progress, presently, there is no effective treatment available for NCLs. The outcome of the disease is usually fatal within a few years after the onset of clinical symptoms.[3] Early definitive diagnosis of NCLs and characterization of genetic deficiency in the affected family are the primary intervention approaches. Carrier identification and prenatal diagnosis are the only ways currently available to prevent NCLs.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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