Late Adult-Onset Metachromatic Leukodystrophy

Bosch, E. Peter; Hart, Michael N.

doi:10.1001/archneur.1978.00500310077017

Cited by 47 publications

(7 citation statements)

References 15 publications

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“…In most of the cases de scribed in which the precise values have been expressed, the range is between 5 and 10% of control values [12,16,22,25]; this is also the case in our own experience. In some cases, values of 20% have been found [18]. Re cently, studies at the molecular level have shown that a patient with low ASA activity (around 20% of normal controls) with neurological and psychiatric symptoms is a probable MLD/pseudodeficiency compound hetero zygote (ASA"/ASAp) at the ASA locus [31].…”

Section: Biochemical Diagnosismentioning

confidence: 99%

Adult Forms of Metachromatic Leukodystrophy: Clinical and Biochemical Approach

et al. 1991

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The clinical and biochemical characteristics of metachromatic leukodystrophy (MLD), true adult forms and late juvenile forms which are still living at adulthood, are reviewed as they both are observed in adult Neurology and Psychiatry departments. Mental deterioration is often the first symptom, evolving progressively; and dementia finally occurs. The latency before the appearance of neurological objective symptoms may be long and extend for several years. In many cases, the behavioral abnormalities are the first symptoms. Some of these forms have been diagnosed as schizophrenia. Very seldom, neurological symptoms, especially ataxia, occur without cognitive or psychiatric disturbances. Most of these cases have pyramidal and cerebellar symptoms, at diverse degrees. Seizures can also occur which in some cases can be early symptoms associated to mental deterioration. The association of central and peripheral neurological symptoms is very characteristic of MLD. The peripheral neuropathy is not generally clinically evidenced, but is rarely-missing electrophysiologically. Arylsulfatase A determination should be performed for diagnosis as a first step, and confirmed by the accumulation of sulfatide, either by quantitative determinations in urine or by the sulfatide loading test. It is as yet not clear why certain forms have a rather rapid evolution in 5 years, and others have a very protracted course during decades.

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Section: Biochemical Diagnosismentioning

confidence: 99%

Adult Forms of Metachromatic Leukodystrophy: Clinical and Biochemical Approach

et al. 1991

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“…Unlike other vascular dementias, Binswanger's disease may have a slowly progressive rather than step‐wise course. Clinically, the patients manifest a mixed pyramidal‐extrapyramidal syndrome, dementia, pseudobulbar palsy, and incontinence 15–47 . The presentation and course of the patient discussed above are consistent with a diagnosis of Binswanger's disease, although the absence of a known history of hypertension is unusual.…”

Section: Leukoencephalopathies In the Elderlymentioning

confidence: 72%

“…Metachromatic leukodystrophy (MLD) is an inherited disorder of cerebroside metabolism leading to deposition of sulfatides in the white matter of the central and peripheral nervous systems as well as the viscera. It is an autosomal recessive disease with congenital, late infantile, juvenile, and adult forms, and it may present as late as the seventh decade of life 30 . Metachromatic leukodystrophy is characterized by a progressive dementia often with psychotic features and peripheral neuropathy.…”

Section: Leukoencephalopathies In the Elderlymentioning

confidence: 99%

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Atypical Dementia Syndrome in an Elderly Man

Mahler¹,

Cummings

Tomiyasu

1987

J American Geriatrics Society

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“…The psychiatric symptoms may exist in isolation for decades prior to neurologic deterioration, and are extraordinarily varied. Adult MLD may begin at any age beyond puberty, with a highly variable specific age of onset, ranging from 13 yr (Muller et al, 1969) to 63 yr (Bosch and Hart, 1978). The course of the disease from onset to death may be as short as one and one-half years to as long as four years.…”

Section: Mld and Psychiatric Illnessmentioning

confidence: 99%

Arylsulfatase A (ASA) defect and psychiatric illness

Shah

1990

Molecular and Chemical Neuropathology

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The detection of homozygous (disease state) and heterozygous (carrier) forms of metachromatic leukodystrophy (MLD) and their prevalence among psychiatric individuals are reviewed. Levels of Arylsulfatase A (ASA) activity in peripheral leukocytes, mixed white cell populations, and lymphocytes are compared in normal and psychiatric patients. The prevalence of low levels of enzyme activity in psychiatric patients, and the implications of such levels with regard to the metabolic disease states and associated psychiatric illnesses are discussed. In addition, the use and reliability of leukocyte enzyme assay systems as a criteria for determining and distinguishing between the homozygous and heterozygous conditions are evaluated.

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Late Adult-Onset Metachromatic Leukodystrophy

Cited by 47 publications

References 15 publications

Adult Forms of Metachromatic Leukodystrophy: Clinical and Biochemical Approach

Adult Forms of Metachromatic Leukodystrophy: Clinical and Biochemical Approach

Atypical Dementia Syndrome in an Elderly Man

Arylsulfatase A (ASA) defect and psychiatric illness

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