BACKGROUND Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic condition that was first described in 1983. Since its original description, approximately 50 cases have been reported with various clinical signs and symptoms. Characteristics include progressive neurologic deterioration with extrapyramidal involvement and polyendocrinopathy most notable for hypogonadism starting i...

The diagnosis of Parkinson's disease (PD) is currently based on the clinical evaluation of extrapyramidal signs with a considerable error rate. The identification of specific markers might allow PD diagnosis before the onset of classical motor symptoms. By two-dimensional electrophoresis we identified proteome alterations in T-lymphocytes of 17 control subjects and 15 PD patients. The observed ...

Thirteen children with abnormal mitochondria in muscle tissue, and a progressive neurological disorder that affected the cerebrum, cerebellum, extrapyramidal system, vestibular system, retina, upper motor neuron, lower motor neuron, and musculature, are reported. Other signs and symptoms were short stature, diabetes mellitus, cardiopathy, hypoplastic anaemia, glomerulopathy, and renal tubular d...

Parkinson’s disease (PD) is a relatively common neurological disorder in the elderly. However, only 76% of patients considered clinically to have PD are confirmed to have PD after postmortem examination (Hughes et al., 1993). The most common atypical form of parkinsonism is multiple system atrophy (MSA) (Hughes et al., 1994). MSA is clinically characterized by a combination of parkinsonian, aut...

We present a case of hypoparathyroidism, demonstrating extensive intracranial calcification, not only in basal ganglia, but also outside the extrapyramidal system. The patient presented with an unexplained epileptifors disorder, accompanied by extrapyramidal dysfunction in the form of choreoathetosis and hemiballismus. Hemiballismus is reported for the first time to our knowledge in association...

BACKGROUND Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs. METHODS We report a new large Italian family affected by Gerstmann-Sträussler-Scheinker disease. RESULTS The four generation pedigree includes 11 patients. The mean age at onset +/- SD was 41.4 +/- 16.2 years....

This case study describes the long-term after-effects of hydrogen sulphide exposure in a previously health 27-year-old male. Upon hospital admission the patient had a Glasgow Coma Score (CGS) of 3; with emergency treatment including hyperbaric oxygen treatments, he progressed to a GCS of 15 on day 7. Although both CT and MRI scans were unremarkable, PET using F-18 deoxyglucose administered 3 ye...

OBJECTIVE To determine electroencephalographic signs of dopamine deficiency syndrome during the recovery after severe brain injury (SBI). MATERIAL AND METHODS We studied 35 patients with SBI (23 men and 12 women, mean age 29 ± 13 years). RESULTS AND CONCLUSION We identified a set of neurological symptoms (increased muscular tone of extrapyramidal type, rest tremor, autonomic disorders, whic...

A 50 year old patient is described who presented with parkinsonism, frontal dementia, peripheral neuropathy, neurogenic bladder, and upper motor neuron signs. No improvement in objective measurements of extrapyramidal dysfunction were seen with an incremental apomorphine test or more prolonged oral dopamine challenge. Neurophysiology disclosed changes compatible with a diffuse axonal neuropathy...