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Abiotrophy in Domestic Animals: a Review

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Abiotrophy in Domestic Animals: a Review Abiotrophy in Domestic Animals: A Review Alexander de Lahunta ABSTRACT and it allows us to concentrate our can be made to normal neuronal efforts on determining the specific development in which many popula- This review of abiotrophies in cytological defect that is present and tions of differentiated neurons die domestic animals has been organized ideally the genetic basis for its prematurely as a normal programmed by the predominate anatomical loca- occurrence. When we use abiotrophy developmental event. Some of the tion of the lesion. Secondary consider- to name a disease, we are only mechanisms may be common to both ations include the major signs of the describing the pathological process processes. This normal developmental clinical disorder and special neuropa- a concept of the mechanism resulting event occurs in the peripheral nervous thological features. Those abiotro- in the degeneration that is described. system when motoneurons from the phies that have an established genetic As the underlying cause of the ventral grey column fail to develop a basis are identifiled but the review abiotrophy is determined, this should normal motor end plate relationship includes degenerative disorders in be used in naming the disease. Using with a skeletal muscle fiber which is which the etiology is not yet the concept of abiotrophy in its the target organ. These neurons established. broadest sense it is applicable to any of degenerate. The ultimate size and the inherited degenerative diseases of shape of the ventral grey column the nervous system. This would reflects this normal degenerative Gowers in 1902 (1) gave a lecture include the numerous cerebellar process (2,3). In the central nervous entitled a "Lecture on Abiotrophy" in cortical degenerations about which we system the normal development of the which he developed and applied the have little knowledge of the primary mature visual system is a result of concept of abiotrophy as a pathologi- cellular defect in most instances. significant degeneration of retinal cal process. He applied this to the Abiotrophy also applies to the ganglion cells that failed to complete understanding of degenerative dis- numerous examples of storage disease normal synapses on dendrites and eases of the nervous system. These which affect neurons diffusely. In soma of neurons in the lateral diseases are characterized by the many of these the specific enzymatic geniculate nucleus (4). The viability of spontaneous degeneration of neurons defect is known as well as the the latter thalamic neurons is depend- prematurely. Once normal neurons mechanism of inheritance. These ent on their normal synaptic develop- are differentiated they continue to storage diseases are appropriately ment with neurons in the visual grow but do not divide and once identified by the specific enzyme system's cerebral cortex in the occipi- having completed their development deficiency. Nevertheless the patholog- tal lobe. are expected to last the lifetime of the ical process that results from this Our goal as veterinary scientists is individual. The premature degenera- enzyme deficiency is an abiotrophy. first to recognize and describe the tion of these cells reflects an intrinsic Where our knowledge includes a abiotrophy and then to study it further abnormality in their structure which unique feature of the abiotrophic to understand the intrinsic abnormality alters their metabolic activity resulting process, the disease has been named by on a structural, biochemical and genetic in their unexpected degeneration. that pathological feature such as basis. This will allow us to offer appro- Abiotrophy refers to this process. In neuraxonal dystrophy, neurofila- priate genetic counseling to prevent contrast with the broader connotation mentous disease and chromatolytic further occurrence of the disease and of the term atrophy, abiotrophy limits diseases. It must be remembered that ultimately to offer therapy for patients the cellular defect to an inborn these are just features reflecting the by restoring the defective mechanism. metabolic error of development and degeneration of the neuron which The use of gene transfer mechanisms is excludes exogenous insults that can have a large variety of causes. Many of now in its infancy but hopefully in the cause the demise of the cell. The these are exogenous toxicities. Abio- near future will permit the treatment of underlying cellular defect in most trophy refers simply to those processes what are presently lethal diseases (5). abiotrophies is inherited. that are intrinsic to the neuron and The use of domestic animals that have Abiotrophy is a pathological pro- limit its normal viability. diseases similar to those in people will cess by which we can classify a In considering a premature degener- be vital in these studies to achieve this degeneration in the nervous system ation as a disease process, comparison therapeutic success. Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, Ithaca, New York 14853. Submitted June 27, 1989. Can J Vet Res 1990; 54: 65-76 65 In this review of domestic animal TABLE I. abiotrophies, I have excluded the Motoneuron numerous storage Degenerations diseases and leuko- Swedish Lapland dog - Sandefeldt 1973 (19) dystrophies caused by specific lyso- Saint Bernard - Great Dane - Bloodhound somal enzyme deficiencies. Biological Crosses - Stockard 1936 (20) processes often defy rigid systematic Brittany Spaniel - Lorenz 1979 (20, 21) categorization. Regardless ofthe choice Rottweiler - Shell 1987 (26) English Pointer - Inada 1978 (28) of classification, overlaps and excep- German Shepherd - Cummings 1989 (31) tions will occur. I have chosen primarily Multisystem Degenerations an anatomic approach based on where Cell Body the major lesion is located but this is Cocker Spaniel - Zaggy 1988 (32) Cairn Terrier - Palmer, Cummings 1988 (33-35) influenced secondarily by the major Angora Goat - Lancaster 1987 (36) presenting clinical signs or nature ofthe Processes pathological process (Table I). The Simmental - Harper, Hartley 1989 (37, 38) major groups include: 1) Motoneuron Limousin X - Palmer, 1988/ Harper 1989 (39, 40) degenerative diseases. 2) Multisystem Brown Swiss - Leipold 1973 (41) Smooth Fox Terrier - Bjorck 1957 (46) degenerations. These are further Jack Russell Terrier - Hartley 1973 (47) divided by the part of the neuron Bull Mastiff - Carmichael 1983 (49) involved cell body, process, myelin German Shepherd - Averill 1973 (50) only or by the major pathological Horses (Appaloosa) - Mayhew 1977 (56) feature that is present neuraxonal Myelin Rottweiler - Gamble 1984 (60) dystrophy, neurofilamentous accumu- Labrador Retriever - O'Brien 1985 (62) lations. 3) Cerebellar degenerations. 4) Dalmation - Bjerkas 1977 (64) Miscellaneous degenerations. All of the Afghan Hound - Cummings 1978 (65) diseases that are included here are Charolais - Palmer 1972 (67) Murray Gray - Richards 1986 (69) degenerative processes. All are consi- Hereford - Harper 1986 (71) dered to be abiotrophies at the present Neuraxonal Dystrophy level of our understanding. The genetic Suffolk, Merino, Romney basis for some has been established. In Coopworth, Perendale Sheep others, only the lesions have been -Cordy 1967, Harper 1986, Nuttal 1988 (74-76) Cat - Woodard 1974 (81) described but the cause remains Collie Sheep dog - Clark 1982 (77) unknown. Further investigation of Rottweiler - Cork 1983 (78) some of these may confirm an extrinsic Chihuahua - Blakemore 1985 (82) cause such as toxicity or nutritional Boxer - Griffiths 1980 (87) German Shepherd - Duncan 1977 (83) deficiency rather than a genetic basis, Morgan - Beech 1984 (93) and therefore exclude them from this Neurofilamentous Disease classification of abiotrophies. Yorkshire Pig - Higgins 1973 (97) Although this is a review of nervous Collie - de Lahunta 1975 (98) system abiotrophies the close clinical Cat - Vandevelde 1976 (99) Grant Zebra - Higgins 1977 (100) and morphological relationship of Hereford - Rousseaux 1983 (101) skeletal muscle to the nervous system Cerebellum warrants the observation that impor- Dog - Autosomal Recessive tant muscle abiotrophies exist. Kerry Blue Terrier - de Lahunta 1976 (106) Gordon Setter - de Lahunta 1980 (114) Although muscle cells have the capabil- Rough Coated Collie - Hartley 1978 (105) ity of regeneration, specific defects in Dog - Multiple litters their structural integrity can lead to Airdale Beagle their premature degeneration. In Bernese Mountain dog Samoyed domestic animals these structural Finnish Harrier Clumber Spaniel Brittany Spaniel Akita abnormalities can be morphologically Border Collie very subtle but clinically very profound Dog - Single animal or litter as in the congenital myotonic Miniature Poodle Golden Retriever myopathy recognized in goats (6) and Fox Terrier Great Dane Cairn Terrier Schnauzer x Beagle the Chow Chow dog (7). These are Cocker Spaniel Mongrel inherited disorders that are similar to Labrador Retriever Thomsen's disease in people. The other Cattle extreme in morphological deterioration Angus Shorthorn of Holstein Hereford muscle is the sex-linked recessive Ayrshire Charolais myopathy of male Golden Retrievers Sheep (8) and Irish Terriers (9). The disease in Merino Golden Retrievers has been found to be Welsh Mountain a nearly perfect animal model of Corriedale (Continued) 66 TABLE I. Concluded not aware that this disease has ever been seen under natural breeding Others Horse - Arabian, Gotland pony conditions. Yorkshire
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