Clear diagnosis with genetic testing is the basis of effective treatment and management for many disorders of the brain and nervous system. Serving as an invaluable tool, genetic testing enables the identification of inherited neurological conditions, such as muscle control and movement disorders, delayed mental development, degeneracy and learning disabilities. With knowledge of variants associated with neurological diseases in more than 1,850 genes, our vast knowledge and diagnostic expertise can help you diagnose your patients quickly and comprehensively.
Articles on Neurology
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Diagnostic Difficulties in Krabbe Disease: A Report of Two Cases and Review of Literature
Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the deficiency of β-galactocerebrosidase (GALC) or in very rare cases by lack of active saposin A. We…
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Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?
Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated with autosomal recessive neurodegenerative phenotypes encompassing spastic paraplegia with or without dystonia, and demyelinating…
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Glucocerebrosidase Mutations in a Serbian Parkinson’s Disease Population
Gaucher disease (GD) is caused by homozygous or compound heterozygous mutations in the b-glucocerebrosidase (GBA) gene. GBA mutations can be classified according to phenotypic effects as mild (associated with ‘non-neuronopathic’ Type 1 GD) and severe or null (neuronopathic Type 2 or 3…
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Investigating Function and Connectivity of Morphometric Findings – Exemplified on Cerebellar Atrophy in Spinocerebellar Ataxia 17 (SCA17)
Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia but also a broad spectrum of other neuropsychiatric signs. As anatomical and structural studies have shown severe cerebellar atrophy in SCA17 and a…
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A Novel SGCE Gene Mutation Causing Myoclonus Dystonia in a Family with an Unusual Phenotype
Myoclonus dystonia is an autosomal dominant dystonia-plus syndrome, characterized by symptom variability within families. Most often is the myoclonus the most debilitating symptom, and many patients report myoclonus reduction after alcohol intake. In several families, mutations in the SGCE gene have…