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Biomedical subjects

M H Bowman

Publications and source records attributed to M H Bowman.

8 recordsLinked to original sources
PubMed1987

Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.

Chorea-acanthocytosis (CHA) is a rare inherited neurologic disorder with peripheral red cell acanthocytes and normal serum lipoprotein levels. To date, 8 families with the disorder have been reported outside of Japan. We describe 4 patients in 3 families with CHA and review the clinical presentations in previous reports. In addition, we report magnetic resonance imaging scans in these patients. The pattern of inheritance in these families is most likely autosomal recessive. Obligate heterozygotes do not have acanthocytes on wet preparation under phase microscope. Two of 3 propositi were initially diagnosed as having Huntington chorea. Chorea-acanthocytosis is an important differential in the diagnosis of Huntington chorea and should be considered in families without a family history. The paucity of families with CHA reported to date may represent lack of recognition.

Acanthocytes↗
PubMed1986

Evoked potentials in choreoacanthocytosis.

Visual, brain-stem auditory and somatosensory evoked potentials were obtained in two patients with choreoacanthocytosis. Only minor SSEP amplitude reduction was found in one patient. Therefore evoked potentials were not helpful in identifying patients with symptoms of this disorder of up to 8 years duration.

Acanthocytes↗
PubMed1975

The direct spinal area of the inferior olivary nucleus: an electron microscopic study.

Identification of the direct spinal areas (portions of the dorsal and medial accessory nuclei) within the opossum inferior olivary complex was accomplished by mapping the location of the terminal degeneration by the Fink-Heimer technique subsequent to cervical cord lesions. Following similar lesions, sampling of these same regions for electron microscopic study was assured by examination of transversely oriented, 1 mu plastic sections prior to thin sectioning. The first evidence of electron dense axon terminals was found at a survival time of 24 hours. At survival times of 36, 48 and 72 hours, degenerating presynaptic profiles shrink, become irregular in shape and are totally or partially surrounded by glial processes. Spinal terminals average 1-2 mu in their greatest dimension, contain round, clear synaptic vesicles and generally contact small diameter (0.4--1.8 mu) dendritic shafts or occasional spiny appendages. The spiny dendritic appendages make up the central core of the olivary glomeruli and these juxtaposed dendritic processes exhibit gap junctions. At longer survival times (5, 7 and 9 days) many presynaptic profiles with either round or pleomorphic synaptic vesicles remain normal in appearance and contact dendritic shafts or the spiny appendages within glomeruli. Afferents from other sources (possible including intrinsic neurons) must terminate within the direct spinal portion of the nuclear complex to account for the numerous axon terminals which retain normal morphology after such long survival times.

Animals↗