Perinatal Neuropathy as an Early Manifestation of Krabbe's Disease

Lieberman, James S.; Oshtory, Meherji; Taylor, Robert G.; Dreyfus, P

doi:10.1001/archneur.1980.00500560076012

Cited by 23 publications

(5 citation statements)

References 6 publications

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“…The youngest reported patient to date with KD-associated polyneuropathy is a 7-week-old asymptomatic infant diagnosed in utero through amniocentesis. 3 Our data in three neonates (Ͻ1 month old) show unequivocal and severe conduction abnormalities. Motor CV in the first month of life is typically about 50% of the adult value in any given nerve, and reaches the adult values between 2 and 5 years of age.…”

Section: Resultsmentioning

confidence: 58%

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Peripheral neuropathy in Krabbe disease

Siddiqi¹,

Sanders²,

Massey³

2006

Neurology

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Section: Resultsmentioning

confidence: 58%

“…[2][3][4] Nerve conduction studies (NCS) in the early form of KD show uniform slowing of nerve conduction velocities without conduction block or dispersion of waveforms. Though the electrophysiologic features of the neuropathy associated with KD are known in general, certain important details are not clear from previous reports.…”

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confidence: 99%

Peripheral neuropathy in Krabbe disease

Siddiqi¹,

Sanders²,

Massey³

2006

Neurology

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“…One child with Krabbe disease diagnosed by amniocentesis had NCS performed at 7 weeks and again at 8 months of age 10. The CVs at both ages were decreased compared to the normal range for age.…”

Section: Discussionmentioning

confidence: 95%

Serial electrophysiologic studies in rhesus monkeys with Krabbe disease

et al. 2005

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Krabbe disease is a progressive leukodystrophy that results in demyelination in the central and peripheral nervous systems in humans. It has been described in a number of mammalian species including the rhesus monkey. We performed serial nerve conduction studies beginning within the first 2 months of life in four homozygous, two heterozygous, and two normal rhesus monkeys (Macaca mulatta) to characterize the peripheral neuropathy. Mean conduction velocities of the median, ulnar, and tibial nerves were significantly slower in the affected than unaffected monkeys at all ages (P < 0.0001). The conduction velocity differences became more apparent between the affected and unaffected as the monkeys aged. When compared to the unaffected monkeys, the serial conduction velocities suggested occurrence of dysmyelination followed by demyelination in the affected monkeys. These observations provide further insight into the disease process and suggest an early window of opportunity for treating Krabbe disease.

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“…The most typical onset for Krabbe disease of infantile phenotype is between 3 and 6 months of age, which is earliest among these three diseases. Both peripheral and central nerves are impaired, MCV is low, and CSF protein level is high, which is similar to MLD (Lieberman et al, ; Zafeiriou et al, ; Dali et al, ).…”

Section: The Diversity Of Clinical Manifestation In Krabbe Diseasementioning

confidence: 78%

Challenge of phenotype estimation for optimal treatment of Krabbe disease

Sakai

Otomo

2016

J of Neuroscience Research

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Krabbe disease is an autosomal recessive, inherited demyelinating disease caused by deficiency of the lysosomal enzyme galactocerebrosidase. It is recognized as one of the predominant genetic diseases showing leukodystrophy from infancy to adulthood. The clinical phenotype and genotype for this disease show considerable variation worldwide, which makes accurate diagnosis difficult. Effective therapy is limited, although hematopoietic stem cell transplantation at an early stage has been established to some extent. We report here the long-term clinical effect on juvenile Krabbe disease for two brothers who underwent hematopoietic stem cell transplantation at an early stage of their disease. We review research into genotype-phenotype correlation for the possibility of early diagnosis at a presymptomatic stage. Medical care for this intractable disease will improve in the near future as a result of the increasing awareness of its molecular pathology and improvements in medical treatment. © 2016 Wiley Periodicals, Inc.

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Perinatal Neuropathy as an Early Manifestation of Krabbe's Disease

Cited by 23 publications

References 6 publications

Peripheral neuropathy in Krabbe disease

Peripheral neuropathy in Krabbe disease

Serial electrophysiologic studies in rhesus monkeys with Krabbe disease

Challenge of phenotype estimation for optimal treatment of Krabbe disease

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