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Hereditary Spastic Ataxia: Report of a Family Through Four Generations
Author(s) -
ISHINO Hiroshi,
SATO Mitsumoto,
TERAO Akira,
HAYAHARA Toshiyuki,
OTSUKI Saburo,
HOAKI Takayuki
Publication year - 1971
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1111/j.1440-1819.1971.tb02917.x
Subject(s) - anatomy , pons , spinal cord , ataxia , medicine , white matter , pathology , magnetic resonance imaging , psychiatry , radiology
SUMMARY The authors reported five cases of here‐ditary ataxia (Marie). The same symptoms of the disease have been observed through four generations in ten members of this family. Clinical and pathological features of one of five cases were as follows:1) Clinical course: A male, aged thirty‐eight at the time of death, complained of spastic‐ataxic gait at the age of twenty‐five, which was followed gradually by double vision dysarthria. At the age of thirty‐six, the patient became bedridden, demented and depressed, accompanied with confusional‐oneiroid state in the night. Neurologically he showed accomodation paralysis, horizontal nystagumus, slight nerve deafness, logoclonia and cerebellar ataxia. Deep tendon reflexes were exaggerated, there was a Babinski unilaterally. Muscle atrophy as well as rigidity of the lower limbs was noted. He died after the clinical course of thirteen years. 2) Autopsy findings: Macroscopically pons, medulla oblongata, spinal cord and cerebellum were small. In frontal sections, moderate enlargement of lateral ventricles was noted. On cross‐section, transverse fibers of pons were diminished in number and gray matter of spinal cord was unsharply‐defined. White matter of cerebellar hemispheres was narrower than normal. Microscopically, ventral and dorsal spinocerebellar tracts were degenerated from lower thoracic segments to lateral sides of corpus restiforme. In addition, moderate demyelination of fasciculus gracilis (Goll) was found from thoracic segments to refgion of pyramidal decussation. Marked diminution of anterior horn cells was found. Chronic cell change of nerve cells of pontine nucleus, severe disparation of nerve cells and scattering of melanin pigments in substantia nigra were also found. Cerebellum was almost normal. 3) This case belongs to hereditary spastic ataxia (Greenfield). In this case, degeneration of anterior horn cells and substantia nigra was also found. Clinical and pathological comparison with nine cases reported in the literature was made.