Scientific Publications
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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 […]
Vocal Cord Paralysis and Rapid Progressive Motor Neuron Disease by the I113F Mutation in SOD1 Gene
Familial cases of amyotrophic lateral sclerosis are most frequently caused by mutation in the superoxide dismutase-1 (SOD1) gene. We report a heterozygous I113F mutation in a patient with familial […]
Hereditary Spastic Paraplegia Associated with Axonal Neuropathy: A Novel Mutation of SPG3A in a Large Family
Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We […]
Juvenile Parkinsonism Associated with Heterozygous Frameshift ATP13A2 Gene Mutation
We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. To our knowledge, this is the youngest reported patient with JP […]
Respiratory Disease in Niemann-Pick Type C2 Is Caused by Pulmonary Alveolar Proteinosis
Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient […]
Ataxia Oculomotor Apraxia Type 2: Course over 27 Years and a Novel Stop Mutation in the Senataxin Gene
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in the senataxin (SETX) gene coding for the ortholog of a yeast DNA/RNA helicase […]