Literature DB >> 2986405

Infantile neuroaxonal dystrophy in an albino girl. A cliniconeuropathologic study.

K E Wisniewski, M Laure-Kamionowska, J Sher, J Pitter.   

Abstract

We present a cliniconeuropathologic study of infantile neuroaxonal dystrophy (INAD) in a 5-year-old Black girl with albinism. The clinical picture shows progressive psychomotor deterioration, beginning after 1 year of age, with hypotonia, pyramidal signs, optic atrophy, and deafness. Light-microscopic examination of the brain reveals wide distribution of spheroids, cerebellar atrophy, and neuronal loss with astrocytosis. This is the first described case of the combination of INAD with albinism.

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Year:  1985        PMID： 2986405     DOI： 10.1007/bf00698297

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


  10 in total

1.  Abnormal visual pathways in the brain of a human albino.

Authors:  R W Guillery; A N Okoro; C J Witkop
Journal:  Brain Res       Date:  1975-10-17       Impact factor: 3.252

2.  Infantile neuroaxonal dystrophy.

Authors:  D COWEN; E V OLMSTEAD
Journal:  J Neuropathol Exp Neurol       Date:  1963-04       Impact factor: 3.685

3.  Acrofacial dysostosis with growth and mental retardation in three males, one with simultaneous Hermansky-Pudlak syndrome.

Authors:  T E Kelly; R J Cooke; R W Kester
Journal:  Birth Defects Orig Artic Ser       Date:  1977

4.  [Clinical development of infantile neuro-axonal dystrophy in the light of the chronology of subjacent systematic atrophies].

Authors:  L Martin; L Trelles; J J Martin
Journal:  J Neurol Sci       Date:  1972-04       Impact factor: 3.181

5.  Reduction of neuronal specific protein and some neurotransmitters in the infantile neuroaxonal dystrophy (INAD).

Authors:  K Wisniewski; H Czosnek; H M Wisniewski; D Soifer; P L Ramos; K S Kim; K Iqbal
Journal:  Neuropediatrics       Date:  1982-08       Impact factor: 1.947

6.  Reactive neuroaxonal dystrophy in children. Clinical pathological correlation.

Authors:  H Mei Liu
Journal:  Acta Neuropathol       Date:  1978-06-30       Impact factor: 17.088

7.  Diagnosis of infantile neuroaxonal dystrophy by skin biopsy.

Authors:  K Wisniewski; H M Wisniewski
Journal:  Ann Neurol       Date:  1980-04       Impact factor: 10.422

8.  Skin and conjunctival biopsies in infantile neuroaxonal dystrophy.

Authors:  J J Martin; J G Leroy; J Libert; M van Eygen; N Logghe
Journal:  Acta Neuropathol       Date:  1979-03-15       Impact factor: 17.088

9.  Intermitochondrial septate structures in dystrophic axons.

Authors:  P L Ramos; K Wisniewski; G A Jervis; H M Wisniewski
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088

10.  Infantile neuroaxonal dystrophy.

Authors:  J Aicardi; P Castelein
Journal:  Brain       Date:  1979-12       Impact factor: 13.501
  10 in total
  2 in total

1.  Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

Authors:  Y Shiloh; G Litvak; Y Ziv; T Lehner; L Sandkuyl; M Hildesheimer; V Buchris; F P Cremers; P Szabo; B N White
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

2.  Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report.

Authors:  Baotian Wang; Jiulai Tang
Journal:  Exp Ther Med       Date:  2018-06-22       Impact factor: 2.447
  2 in total

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