journal cover

A sibship with neuroaxonal dystrophy and renal tubular acidosis: a new syndrome?

Annals of Neurology

Jun 1, 1983

Marco MaccarioB E Reimann

Get paper from

Abstract

The clinical and pathological features of three siblings from nonconsanguineous parents are described. Two of the children died at 6 1/2 and 7 months of age of a central nervous system disorder characterized by severe behavioral retardation, hypotonia, and pyramidal tract signs. The thi...read more

Mentioned in this Paper

Mental Retardation
Hallervorden-Spatz Syndrome
Tomography, X-Ray Computerized Axial
Bulla
Electron Microscopy
Brain
Neuroaxonal Dystrophies
Brain Pathology
Mental Disorders
Gliosis
Paper Details
References
  • References7
  • Citations
  • quote and clock

    No citations available

    This paper may not have been cited yet.

Similar Papers Found In These Feeds

Neuroacanthocytosis

Neuroacanthocytosis is a heterogeneous group of hereditary syndromes characterized by the association of neurological abnormalities with acanthocytosis. Discover the latest research on neuroacanthocytosis here.

Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by genetic defects in SMN1 gene, which encodes survival motor neuron 1 (SMN1) protein. SMA is characterized by loss of lower motor neurons and progressive muscle wasting. Here is the latest research on this rare condition.

Hallervorden-Spatz Disease

Hallervorden-Spatz disease, also known as pantothenate kinase-associated neurodegeneration, is a rare neurodegenerative disease associated with iron accumulation in the brain. Here is the latest research.

Astrocytes & Amyloid

The relationship between astrocytes and amyloid has been suggested in some neurological diseases such as Alzheimer’s disease. Neuronal damage stimulates the activation of reactive astrocytes, which may the source of amyloid that forms in Alzheimer’s. Here is the latest research on astrocytes and amyloid.

© 2019 Meta ULC. All rights reserved

A sibship with neuroaxonal dystrophy and renal tubular acidosis: a new syndrome?

Annals of Neurology

Jun 1, 1983

Marco MaccarioB E Reimann

PMID: 6881924

DOI: 10.1002/ana.410130605

Abstract

The clinical and pathological features of three siblings from nonconsanguineous parents are described. Two of the children died at 6 1/2 and 7 months of age of a central nervous system disorder characterized by severe behavioral retardation, hypotonia, and pyramidal tract signs. The thi...read more

Mentioned in this Paper

Mental Retardation
Hallervorden-Spatz Syndrome
Tomography, X-Ray Computerized Axial
Bulla
Electron Microscopy

Related Papers

Get paper from

/papers/a-sibship-with-neuroaxonal-dystrophy-and-renal/6881924