Neurology
The goal of genetic testing for hereditary neurological diseases is to determine whether or not a patient has the disease, or is likely to develop it. Determining the molecular cause of a neurological disease can open the door to individually tailored treatment and medical care, and allow families to avoid invasive and often costly testing and procedures.
Articles on neurology
-
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…
-
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…
-
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…
-
Autosomal dominant Parkinson´s disease in a large German pedigree
Parkinson´s disease (PD) is a common disabling neurodegenerative disorder characterized by bradykinesia, rest tremor, rigidity, and postural instability with a prevalence of 2% in elderly persons. While several genes have been identified to cause Parkinson´s disease (PD), monogenic forms explain…
-
An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech
The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. An unusual neurological syndrome of crawling gait, predominant leg dystonia, pyramidal signs, microcephaly, and suspected deafness segregated in the family. We…