Rare Diseases Symptoms Automatic Extraction

Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients.

[alexander disease]

To clarify the clinical manifestations of adult-onset Alexander disease (AOAD) in Japanese patients with glial fibrillary acidic protein (GFAP) gene mutations.  Twelve patients of AOAD with GFAP mutations detected in our centre were examined for neurological and magnetic resonance imaging (MRI) findings.  Major symptoms were pyramidal and bulbar signs. In addition, three patients presented abnormal behaviour and/or memory disturbance. Two of the three patients also had Parkinsonism and had been diagnosed with fronto-temporal dementia or progressive supranuclear palsy until GFAP mutations were detected. Abnormalities of the medulla oblongata and cervical spinal cord were observed on MRI in all patients.  Patients presenting with pyramidal and/or bulbar signs with abnormalities of the medulla oblongata and cervical spinal cord on MRI should be considered for GFAP analysis as this is the typical presentation of AOAD. Abnormal behaviour and cognitive disorders including deterioration of memory were rare symptoms but could be an obstacle to diagnosing Alexander disease.

Diseases presenting "parkinsonism" symptom

  • 22q11.2 deletion syndrome
  • alexander disease
  • cadasil
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • oculocutaneous albinism
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • triple a syndrome

This symptom has already been validated