Chemical studies of two cerebral biopsies in juvenile metachromatic leukodystrophy: The molecular composition of cerebrosides and sulfatides

Menkes, John H.

doi:10.1016/s0022-3476(66)80087-2

Cited by 13 publications

(3 citation statements)

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“…However, there was no morphological evidence of a lesion of axis cylinders. Recent reports of abnormal gangliosides in the white matter of some cases of meta*chromatic leucodystrophy by O'Brien (1964), Austin (1965), Austin, Armstrong, and Bischel (1966), Austin, Armstrong, and Shearer (1965), MArtensson, Percy, and Svennerholm (1966), and Menkes (1966, suggest a more widespread upset of metabolism than is likely to be due just to lack of a sulphatase. Davison and Gregson (1962) showed in the central nervous system that sulphatides were present in two distinct metabolic compartments.…”

Section: Discussionmentioning

confidence: 99%

“…The larger and more stable sulphatide fraction was associated with myelin. Menkes (1966) suggested that a deficiency of sulphatase rapidly could produce damaging metabolic effects in the former compartment, and a more slowly appearing accumulation of sulphatide in the latter. Thus, cellular dysfunction or death due to disordered metabolism need not parallel the accumulation of metachromatic material in myelin which is relatively inert metabolically, and this is what has been demonstrated morphologically in this paper.…”

Section: Discussionmentioning

confidence: 99%

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Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide.

Dayan¹

1967

Journal of Neurology, Neurosurgery & Psychiatry

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Peripheral nerve abnormalities in metachromatic leucodystrophy have been noted many times since Jacobi (1947) first reported metachromatic material in the sciatic nerve of her patient. The finding of metachromatic granules in a peripheral nerve biopsy, usually the sural nerve, has been recommended as a method of diagnosing this disease (Thieffry and Lyon, 1959;Hagberg, Sourander, and Thoren, 1962). The occurence of granules, mainly in Schwann cells, and also in macrophages, has been thought to be due to the same metabolic anomaly affecting the cells responsible for myelin formation: oligodendroglia in the central nervous system, and Schwann cells in the peripheral nervous system. Phase-contrast and electron microscope studies (Webster, 1962) and electrophysiological observations (Fullerton, 1964) NERVE TEASING This was done by a method modified from Thomas's (1955) account. Formalin-fixed nerves were washed in water and placed in 1 % aqueous osmic acid for 24 hours. After further washing, they were placed in 60 % glycerol in water until required. Under a dissecting microscope, at a magnification of x 25 or x 50, single nerve fibres were teased out freehand from fascicles, using fine sewing needles for dissection. Individual fibres were placed on clean slides in batches of about 20, straightened, dried in air at 37'C., and mounted in glycerine jelly. Some specimens of nerves after fixation were stained in bulk by the Hirsch-Peiffer method, by immersion in acidified cresyl violet for 24 hours, and then macerated in 60 % glycerine before being teased.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide.

Dayan¹

1967

Journal of Neurology, Neurosurgery & Psychiatry

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“…In the two children described in this paper the duration of symptoms before the onset of definite organic features was 6-7 months and 5-6 months respectively, emphasizing the insidious development of this disease. Metachromatic material can be found in the peripheral nerves and urine (Menkes, 1966) but obviously the diagnosis has to be confirmed by leucocyte enzyme studies and the demonstration of abnormal sulphatide excretion in the urine.…”

Section: Discussionmentioning

confidence: 99%

The insidious presentation of the juvenile form of metachromatic leucodystrophy

Gordon

1978

Postgraduate Medical Journal

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Metachromatic Leukodystrophy (MLD)

Austin¹

1968

Arch Neurol

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ADULTS, as well as children, develop metachromatic leukodystrophy (MLD).Does the adult with MLD also have a sulfatase A deficiency? If he does, can this enzyme deficiency really explain his illness? For example, if one presumes that the enzymic defect is inborn, why did his symptoms not begin when he was a child? Are different mechanisms involved in the delayed demyelination of adult MLD than in the form of MLD which affects young children?1-3 Answers to questions posed in the MLD model may help explain why other neurological disorders, though "inborn," appear clinically only later in life.The purpose of the present report is threefold: (1) to note sulfatase studies and other laboratory data in a 62-year-old adult with MLD; (2) to review the pertinent literature and to comment on some special clinical features and pathogenic mechanisms of adult MLD; (3) to synthesize from this information a working hypothesis for the late onset and protracted course of this adult form of MLD. Materials and MethodsOur attention was drawn to an adult living MLD patient by the clinical and autopsy re-port on the patient's brother by Ettinger in 1965.4 The MLD patient still alive will be des¬ ignated "patient 1". The description of case 2, given below, is an abstract of the case report4 of the brother who died of MLD.Case 1.-This patient was referred for clini¬ cal and laboratory study through the Psychi¬ atric Clinic, Solothurn, Switzerland. As a baby, he was thought to be slightly slow in develop¬ ment. Later on he was regarded as having reached a normal level of development. He passed the first eight grades of primary school consecutively. He worked subsequently as an unskilled worker in a watch factory, as a con¬ struction worker, and as a farm laborer. It is possible that his adult symptoms first began at age 26. He progressively neglected his family and personal affairs, became alcoholic, and was finally divorced. He was admitted at age 47 to the Psychiatric Hospital. He showed superfi¬ cial laughter and mood swings, was confused, disoriented, had a poor memory, and exhibited poverty of speech. There was no nystagmus.Reflexes were present and normal throughout. The Babinski sign was recorded as negative. Neurological examination was otherwise nor¬ mal save for slight finger tremor. Two cerebro¬ spinal fluid (CSF) examinations showed prote¬ ins of 22 and 53 mg/100 cc. The Wasserman was negative. The electroencephalogram showed diffuse slowing with maximal abnormality on the left centrally.Very slow deterioration continued in the hospital over the years. He continued ambula¬ tory but became incontinent. General examina¬ tion at age 62 by one of us (J.A.) showed a well developed man of short stature without bony deformities. A patch of freckle-like multi¬ ple pigmented spots extended throughout the

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Chemical studies of two cerebral biopsies in juvenile metachromatic leukodystrophy: The molecular composition of cerebrosides and sulfatides

Cited by 13 publications

References 32 publications

Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide.

Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide.

The insidious presentation of the juvenile form of metachromatic leucodystrophy

Metachromatic Leukodystrophy (MLD)

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