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Study Assesses Heritability in Degenerative Brain Disorder

Subtypes of frontotemporal lobar degeneration have different heritability, research finds

TUESDAY, Nov. 3 (HealthDay News) -- The different syndromes within frontotemporal lobar degeneration (FTLD) have varying heritability, but, overall, FTLD is highly heritable, according to research published in the Nov. 3 issue of Neurology.

Jonathan D. Rohrer, of the University College London, and colleagues analyzed data from 225 patients with a diagnosis within the FTLD spectrum. Based on family history, patients were scored from one (autosomal dominant family history of FTLD) to four (no family history). Researchers also assessed patients for mutations in six genes associated with FTLD or motor neuron disease.

The researchers found that many (41.8 percent) had some family history of FTLD, but only 10.2 percent had an autosomal dominant inheritance. The most heritable was behavioral variant frontotemporal dementia (bvFTD), and the least heritable were frontotemporal dementia-motor neuron disease, logopenic/phonologic variant of primary progressive aphasia (LPA), and semantic dementia (SemD). Twenty patients (8.9 percent) had mutations in MAPT (microtubule-associated protein tau), and 19 (8.4 percent) had mutations in GRN (progranulin).

"Our results confirm previous findings that FTLD is a highly heritable degenerative disorder. Heritability varies between the different clinical syndromes, with SemD and LPA having a much lower percentage of cases with a family history compared with bvFTD," the authors write. "There are few reports of the associations of LPA with family history although some studies suggest that the majority of cases of LPA actually have Alzheimer-type pathology rather than an FTLD pathology."

Several co-authors reported research support from trusts; financial relationships with pharmaceutical and other companies; work on journal editorial boards; and other disclosures.

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