Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids  

Oleh:

Gerpen, J. A. Van ; Wider, C. ; Broderick, D. F.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Neurology (Official Journal of The American Academy of Neurology) vol. 71 no. 12 (Sep. 2008), page 925-929.
Topik: NEUROAXONAL LEUKODYSTROPHY; VASCULAR DEMENTIA

Ketersediaan

Perpustakaan FK Nomor Panggil: N11.K.2008.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Objective: To report a new American family with hereditary diffuse leukoencephalopathy with spheroids (HDLS), including serial, presymptomatic and symptomatic, cranial MRIs from the proband. Methods: We report clinical and genealogic investigations of an HDLS family, sequential brain MRIs of the proband, and autopsy slides of brain tissue from the proband’s father. Results: We identified seven affected family members (five deceased). The mean age at symptomatic disease onset was 35 years (range: 20–57), and the mean disease duration was 16 years (range: 3–46). Five affected individuals initially manifested memory disturbance and behavioral changes, whereas two experienced a mood disorder as their presenting symptom. Our proband’s father had been diagnosed clinically with vascular dementia, but his brain autopsy was consistent with HDLS. The proband had a cranial MRI prior to symptom onset, with two subsequent MRIs performed during follow-up. These serial images reveal a progressive, confluent, frontal-predominant leukoencephalopathy with symmetric cortical atrophy. Conclusions: The proband of our newly identified hereditary diffuse leukoencephalopathy with spheroids (HDLS) kindred had subtle evidence of an incipient leukoencephalopathy on a presymptomatic cranial MRI. Conceivably, MRI may facilitate identifying affected presymptomatic individuals within known HDLS kindreds, increasing the likelihood of isolating the causative genes.

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