On Familial Ataxia, Neural Amyotrophy, and Their Association With Progresive External Ophthalmoplegia

Stephens, James; Hoover, Mary L.; Denst, John

doi:10.1093/brain/81.4.556

Cited by 61 publications

(14 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Similar vacuoles were not seen in the eye muscle, and the whorled pattern was not present in the limb muscle. [34]. Others are less easily classified but have a variable assortment of degenerative abnormalities involving both the neuraxis and other organ systems in addition to CPEO.…”

Section: Resultsmentioning

confidence: 99%

Extraocular muscle biopsy in chronic progressive external ophthalmoplegia

Ringel

Bruce

Barden

1979

Annals of Neurology

View full text Add to dashboard Cite

A quantitatives assessment of the pathological changes in extraocular muscle is presented in 8 patients with chronic progressive external ophthalmoplegia (CPEO). Serial cross-sections of extraocular muscle were stained with a battery of histochemical and immunohistochemical techniques and compared with 36 normal extraocular muscles and 1 muscle from a patient who had longstanding third nerve plasy with anomalous reinnervation. Several of the patients had a striking increase in the number of ragged-red fibers in extraocular muscle, particularly if frequent ragged-red fibers also were found on limb muscle biopsy. One patients demonstrated extrajunctional acetylcholine receptor (AChR) in a small percentage of fibers, although this finding was not present in the reinnervated muscle. Numerous darkly staining central regions were noted in the ocular muscle fibers of a patient with Stephens syndrome (CPEO, peripheral neuropathy, and cerebellar disease) and in the reinnervated muscle. A patient with myotubular myopathy had single central nuclei in both limb and ocular muscle. All patients demonstrated in their extraocular muscles variation in both the size and distribution of each of the three histochemical fiber types. Extraocular muscle biopsy proved to be a safe, reliable technique. As a similar quantitative analysis is applied to the study of further patients, a better understanding of the pathogenesis of CPEO should be possible.

show abstract

Section: Resultsmentioning

confidence: 99%

Extraocular muscle biopsy in chronic progressive external ophthalmoplegia

Ringel

Bruce

Barden

1979

Annals of Neurology

View full text Add to dashboard Cite

show abstract

“…Ophthalmoplegia has been observed in HA since Brown (1892) and Londe (1895) reported this association in some of their cases. Stephens et al (1958) investigated the condition in FA, finding ocular dystrophy, whereas end plates, nerves, and nuclei were intact. The condition was also reported in CA combined with TRD by De Marco (1968).…”

Section: ?He Distributiorz Of the Different Signs I R I The Vurious Dmentioning

confidence: 99%

A study of certain traits accompanying some inherited neurological disorders

Skre

1975

Clinical Genetics

View full text Add to dashboard Cite

Feeblemindedness, dementia, mental disorders, and epilepsy, as well as optic atrophy, tapeto‐retinal degenerations, cataract, ophthalmoplegias, and neural hearing loss were found more frequently in patients suffering from hereditary ataxias (HA) and allied disorders than in the general population. Mental disorders and squints, and in certain instances also ocular myopathy, feeblemindedness, and cataract were found also in non‐HA family members. These traits were particularly frequent in subjects with minor neurological signs previously defined as having an “unspecific neuropathy” (Un), and belonging to kindreds in which autosomal dominant HA segregated. Un clustering in such families is probably caused by other genetic (or other) mechanisms different from that governing the classical HA in the family. These presumably polygenic conditions are thought to be introduced into the HA kindreds by a negative selection. Optic atrophy, tapeto‐retinal degenerations, surdity, epilepsy, and possibly also dementia, were found together with monomeric disease, as well as in the Un subjects, particularly in families with recessive HA. Such traits were equally rare in unaffected family members and controls. Un in such families as well as the traits mentioned may reflect manifestation of HA genes in heterozygotes. They could also reflect the presence of genes linked to the HA genes.

show abstract

“…This presumably repre¬ sented a myopathy of extraocular muscles related to the same genetic defect that pro¬ duced the neural atrophy seen elsewhere. 7 The histological features of sural nerve and muscle in our case report are quite typi¬ cal. Although this type of peripheral nerve and muscle involvement is the most constant pattern, degeneration of long tracts and es¬ pecially pyramidal fibers occurs with suffi¬ cient frequency to make the pathogenesis uncertain.…”

Section: Report Of Casesmentioning

confidence: 57%

Charcot-Marie-Tooth Disease

Schwartz¹

1963

Arch Neurol

View full text Add to dashboard Cite

Charcot-Marie-Tooth disease (CMTD), or peroneal muscular atrophy (PMA), is an uncommon inherited affection of peripheral nerve and probably root, spinal cord, and muscle of young people. Many aspects of the pathology, etiology, and genetics are unresolved and demand a review of previous findings as well as new approaches in future investigations. In this light, a family containing five male siblings with this illness has been studied. From a review of the literature, it appears this is the first time that : (1) a 45-year follow-up study of this progressive disorder has been attempted; (2) chromosomal analysis has been performed in this heredofamilial disease; and (3) adequate documentation of the associated mental deficiency has been obtained, whereas previous reports have only noted impressions of such. In addition, the development of concepts and controversies regarding certain genetic, pathological, and clinical aspects has been chronologically summarized. Report of CasesPresent Illness and Family History.\p=m-\A44-year-$ old school custodian (the patient in this report) was noted to have early weakness and wasting of muscles predominantly in hands and feet some time between infancy and the age of two years. His four brothers experienced similar symptoms at similar times of onset. Details of incipient symptoms were poorly recalled, but all five siblings reported considerable progression during childhood with a rather static course in adulthood.Forty-five years ago, at the age of three years, the oldest brother (brother 1) was found to have a foot deformity. His photograph at 14 years shows foot drop, equinovarus, and pes cavus best seen in the left foot (Fig 1). Contracture of the tendo calcaneus was described, and he weighed 68 lb (30.8kg) at that time. He was doing poor work in the fifth grade of a special school. At age 19, a Stanford Achievement test gave him an educational age of ten years nine months, and he had not yet passed the school's sixth grade. He died at 33 from pneumonia. Forty years ago, at age six months, the youngest sibling (brother 2) was examined and given an estimated IQ of 100 which must be considered un¬ reliable at that age At 13 months, he walked and talked, but speech was slurred from the beginning. When admitted to a special school at age 121/^, he had a mental age score of five years two months with a resultant IQ of 41. Repeated annual tests in five succeeding years gave IQ's consistently between 38 and 41. On admission to the school, all five broth¬ ers were examined and thought to be feebleminded, but the records lack documentation of the evidence for this impression. Brother 2 was described then as 26 lb (11.8 kg) under expected weight and 3.3 in (8.5 cm) below average height. He appeared emaci¬ ated with poor posture, defective speech, and cyanotic distal upper extremities. A detailed neurological examination was not done. Bowel and bladder control were poor. By age 14, his vocabulary test results were below grade one level. Since then, he has been a behavior problem. No hosp...

show abstract

On Familial Ataxia, Neural Amyotrophy, and Their Association With Progresive External Ophthalmoplegia

Cited by 61 publications

References 0 publications

Extraocular muscle biopsy in chronic progressive external ophthalmoplegia

Extraocular muscle biopsy in chronic progressive external ophthalmoplegia

A study of certain traits accompanying some inherited neurological disorders

Charcot-Marie-Tooth Disease

Contact Info

Product

Resources

About