nethertons syndrome consists of the combination of ichthyosis, eczema, and abnormal hair and presents within the first 10 days of life with erythroderma. other reported features are short stature, mental retardation, and seizures. allergy to nuts and fish is also common amongst patients. mutations in the spink5 gene on 5q are reported in patients with nethertons syndrome. to the best of our kno...

Joanna M. Solowska,1 Gerardo Morfini,2 Aditi Falnikar,1 B. Timothy Himes,1,3 Scott T. Brady,2 Dongyang Huang,2 and Peter W. Baas1 1Department of Neurobiology and Anatomy, Drexel University College of Medicine, Philadelphia, Pennsylvania 19129, 2Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, Illinois 60612, and 3Department of Veterans Affairs Medical Center, ...

This is a case of progressive lower limb weakness in a 72-year-old man secondary to chronic bilateral subdural hematoma. This patient presented with a 3 week history of progressive difficulty in walking, with upper motor neuron signs but no sensory deficit. He had no significant risk factors for chronic subdural hematoma. Literature search revealed only one similar documented case of painless b...

BACKGROUND AND PURPOSE Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare, inherited disorders causing an upper motor neuron syndrome with (complex) or without (pure) additional neurological symptoms. Mutations in the KIF1A gene have already been associated with recessive and dominant forms of hereditary spastic paraplegia (SPG30) in a few cases. METHODS...

The clinical features of five affected members in three generations of a family with dominantly inherited Strumpell's spastic paraplegia are described, together with the pathological findings in two cases. The late presentation and slow progression of the disease encompass features of the types I and II of other authors illustrating the heterogeneous expression of the disorder. Cerebellar invol...

Intrathecal baclofen therapy (ITB) is an established treatment for intractable spasticity. More than 1,100 patients have undergone ITB in Japan, and there are about 50 hereditary spastic paraplegia (HSP) The features of ITB in HSP are 1. small doses of baclofen may often be enough, 2. small changes of doses later the symptoms remarkably, 3. doses can be decreased after long term ITB.

OBJECTIVE To translate and validate the Spastic Paraplegia Rating Scale (SPRS) into Brazilian-Portuguese. METHOD Two experienced and English-fluent neurologists translated SPRS into Portuguese, creating SPRS-BR. We then assessed inter and intra-rater reliability of this version using coefficients of correlation and variability in a cohort of 30 patients. RESULTS Mean age of patients and dis...