This mutation produced a frameshift mutation, which led to a stop codon at position 131. SOD1 activity was decreased by about 30%. The patient’s histological examination showed severe reduction in lower motor neurons. Upon further study, this case proved to be important because it demonstrated that SOD1 mutations might not effect steady neuropathological changes, and that environmental and genetic factors might affect the phenotype of the SOD1 mutations. Treatment
PBP is aggressive and relentless, and there were no treatments for the disease as of 2005. However, early detection of PBP is the optimal scenario in which doctors can map out a plan for management of the disease. This typically involves symptomatic treatments that are frequently used in many lower motor disorders. History
The disease was first recognized by the French neurologist Guillaume Duchenne in 1860 and termed, “labioglossolaryngeal paralysis”. In 1859, Wachsmuth changed the name to progressive bulbar palsy. In 1869, Charcot studied the involvement of the corticospinal tracts and with Joffroy, who noted the loss of the bulbar motor nuclei, discovered the similarities to amyotrophic lateral sclerosis (ALS). It was observed that a distinction from ALS was fatigue that predominated in muscles innervated by lower cranial nerve nuclei, rather than the upper motor neurons. See also
Amyotrophic lateral sclerosis
Motor neuron disease

References
Bibliography
Lapiedra RC, Moreno Lopez LA, and Esparza Gomez GC. Progressive bulbar palsy: a case report diagnosed by lingual symptoms. J Oral Pathol Med. 31: 277-279. (2002)
Hughes TAT and Wiles CM. Neurogenic dysphagia: the role of the neurologist. J Neurol Neurosurg Psychiatry. 64:569-572.
(1998)
Motor Neuron Disorders: Peripheral Nervous System Disorders. Merck Manual Professional section 16, chapter 223f. Merck Online Medical Library www.merck.com. (2005)
Collins, Joseph. Progressive Bulbar Palsy. ‘’The Treatment of Diseases of the Nervous System: A Manual for Practitioners’’. W. Wood and Company. (1900)
Swash M, and Desai J. Motor Neuron Disease: Classification and nomenclature. ALS and Other Motor Neuron Disorders. 1:105-112. (2000)
Kadekawa J et al. A clinicopathological study of a patient with familial amyotrophic lateral sclerosis associated with a two base pair deletion in the copper/zinc superoxide dismutase (SOD1) gene. Act Neuropathol. 94:617-622. (1997)
Campbell, William W. The Cranial Nerves. DeJong’s The Neurologic Examination. Lippincott Williams and Wilkins. (2005)
JW Fawcett, AE Rosser & SB Dunnett. Motor Neuron Disease (or ‘amyotrophic lateral sclerosis’, ALS). ‘’Brain Damage, Brain Repair.’’ Oxford University Press. (2000)

External links

06-095b. at Merck Manual of Diagnosis and Therapy Home Edition