Leukodystrophies

Garbern, James

doi:10.1201/9780849358364.ch20

Cited by 3 publications

(3 citation statements)

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“…Inheritance of the more common forms is autosomal recessive or X-linked recessive. 1 Adult-onset autosomal dominant leukodystrophy (ADLD; Online Mendelian Inheritance in Man accession number 169500) is thus a rarity and was initially reported in 1984 in an Irish-American kindred. 2 The same disease was also described in 2 Swedish families and named adult-onset ADLD with autonomic symptoms.…”

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confidence: 99%

MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

Sundblom¹,

Melberg²,

Kalimo³

et al. 2008

AJNR Am J Neuroradiol

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confidence: 99%

MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

Sundblom¹,

Melberg²,

Kalimo³

et al. 2008

AJNR Am J Neuroradiol

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“…The disease's rarity was determined by a population-based study conducted in Japan, which estimated the prevalence of this disease to be one in every 2.7 million people. While a study in Germany reported that 1.6% of all leukodystrophies were diagnosed with Alexander disease [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Juvenile Alexander Disease: A Rare Leukodystrophy

Wazir¹,

Gul²,

Gul³

et al. 2022

Cureus

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Alexander disease is an uncommon autosomal dominant leukodystrophy that influences the white matter of the central nervous system (CNS), predominantly affecting the frontal lobe bilaterally. The most obvious pathogenic hallmark is the extensive deposition of cytoplasmic inclusions known as "Rosenthal fibers" in perivascular, subpial, and subependymal astrocytes throughout the CNS. The hereditary cause is mutations in the glial fibrillary acidic protein (GFAP) gene. Infantile, adult, and juvenile onsets are the three subtypes. Psychomotor retardation, mile-stone regression, spastic paresis, brain stem symptoms (swallowing, speech, etc.), and seizures define the juvenile variety, which emerges between the ages of three and 10 years. Macrocephaly has a lower likelihood of being a juvenile type. It is generally diagnosed based on clinical and magnetic resonance imaging findings. A five-year-old girl is presented as a case of juvenile Alexander disease, with typical clinical and MRI features.

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“…Nevertheless, in a series from Germany, Alexander disease accounted for 1.6 percent of all leukodystrophies [13]. Rosenthal fibers are not found in the astrocytes of healthy people and contain large quantities of the GFAP.…”

Section: Discussionmentioning

confidence: 99%

Juvenile Alexander Disease: a Case Report

Özkaya

Akcan

Aydemir

et al. 2012

EAJM

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Alexander disease is a rare autosomal recessive disorder that is characterized by degeneration of the white matter in the central nervous system. Alexander disease is a leukodystrophy that is usually observed in early childhood but rarely in adults. It is characterized by megalencephaly, demyelinization and multiple Rosenthal fibers. Specific magnetic resonance imaging (MRI) findings and genetic investigations are necessary to diagnose the disorder. Signs of leukodystrophy were found in the bilateral white matter on a brain MRI of our four-year-old patient. He had megalencephaly since birth. We use this case to discuss Alexander disease.Key Words: Alexander disease, Megalencephaly, Leukodystrophy, Pediatric neurology ÖzetAlexander hastalığı, nadir görülen ve santral sinir sisteminde beyaz cevherin dejenerasyonu ile karakterize otozomal resesif bir rahatsız-lıktır. Alexander hastalığı, genellikle çocukluk çağında nadir olarakta erişkinlerde görülen bir lökodistrofidir. Megalensefali, demyelinizasyon ve çok sayıda Rosenthal lifleri ile karakterizedir. Hastalığın tanısın-da spesifik magnetik rezonans (MRI) bulguları ve genetik araştırmalar faydalı olabilir. Dört yaşındaki olgunun MRI incelemesinde bilateral frontal beyaz cevherde lökodistrofik değişiklikler gözlenmiştir. İnfant döneminden bu yana megalensefali bulguları olguda gözlenmiştir. Bu olgunun yardımıyla, Alexander hastalığını tartışacağız.

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Leukodystrophies

Cited by 3 publications

References 480 publications

MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

Juvenile Alexander Disease: A Rare Leukodystrophy

Juvenile Alexander Disease: a Case Report

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