Howard et al. (1993) presented three siblings from a Kuwaiti family affected with Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia. The neurological progression appeared in the third decade of the patients' life. It was characterized by palatal myoclonus, nystagmus, bulbar weakness and spastic tetraparesis. There was no evidence of intellectual deterioration or seizures. The mother of the three patients developed in her late 30s a paraparesis, followed by myelogram, and became a tetraplegic. She died at the age of 45 due to disease progression characterized by speech and swallowing difficulties. An affected maternal aunt also died in her 50s after she was bed-bound for 13-years. The aunt also had two affected daughters with similar symptoms from a non consanguineous marriage. The youngest 25-year old sister experienced numbness of her face, neck and upper arm as first symptom. After 2-years, she started to have an increasing back pain and was unable to move without support within months. She became completely unable to walk and had difficulties turning in bed. She also suffered from spastic tetraparesis with mild weakness in the arms, but severe weakness in the legs. There was palatal myoclonus and tongue fasciculations. The 27-year old brother became increasingly aware of hoarseness, nocturnal stridor and a tendency to choke. Five years later, he developed the same symptoms that his sister experienced. The third 29-year old sister suffered from the same symptoms, but with less severity than her siblings. CT scan showed marked brainstem atrophy in two patients and basal ganglia calcification in one. MRI scan in one showed high signal in the brainstem and periventricular region, and cerebral biopsy in this patient showed myelin loss and the presence of Rosenthal fibers, which are particularly characteristic of Alexander disease. Howard et al. (1993) suggested that Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia disease is an autosomal recessive disorder with pseudodominant pattern due to the consanguinity.