Predominant motor symptoms in a 74-year-old man with a small elongation in the spinocerebellar atrophy type 1 gene.
The patient was a 74-year-old man who developed gait and bulbar disturbances, which progressed for several years. His mother and a sister complained of a similar disturbance. On admission, generalized muscle atrophy and weakness were prominent, especially in the distal portions of the legs, with bulbar involvement. The patellar tendon reflexes were retained and the Achilles tendon reflexes were decreased with a positive right Babinski's sign. The ocular movements were restricted in vertical directions and, to a lesser extent, in horizontal directions. Sensory disturbance, ataxia, and extrapyramidal signs were not apparent on admission. A needle electromyogram demonstrated neurogenic changes. The laboratory examination was normal except for elevated blood glucose (320 mg/dL) and creatine kinase (1760 U/L). His general condition deteriorated so rapidly that intractable respiratory distress due to pneumonia led to a fatal outcome. The clinical diagnosis was motor neuron disease, although a familial background and a disturbance in ocular movements might have suggested other possibilities.
Uchihara
Toshiki
T
Department of Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Japan. uchihara@tmin.ac.jp
Kobayashi
Takayoshi
T
Mizusawa
Hidehiro
H
D000368:Aged; D000067696:Ataxin-1; D000067528:Ataxins; D001921:Brain / Q000473:pathology*; D003937:Diagnosis, Differential; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D002479:Inclusion Bodies; D008297:Male; D016472:Motor Neuron Disease / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009474:Neurons / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology*
C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins