… We have seen this disease (Schmahmann, Eichler unpublished) produce a relentlessly
progressive dementia in a man in his sixth decade, with inattention, amnesia, impaired cognitive …

Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy
(X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-…

… surveys, deidentified them, and forwarded them to Drs Bley and Eichler and Ms. Giannikopoulos;
Drs Bley and … We also thank Dr April Eichler for critical reading of the manuscript. …

Hereditary sensory and autonomic neuropathy type 1 (HSAN1) causes sensory loss that
predominantly affects the lower limbs, often preceded by hyperpathia and spontaneous …

Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of
hexosaminidase A (HexA). Here, we describe an adeno-associated virus (AAV) gene therapy …

… Eichler MD… Eichler MD … Caviness and AF Eichler for critical reading of the manuscript,
Dr E. Halpern for his advice on the statistical analysis, and B. Tucky and I. …

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding
a peroxisomal ABC transporter. In this review, we compare estimates of incidence derived …

Isolated sulfite oxidase deficiency is a rare but devastating neurologic disease that usually
presents in early infancy with seizures and alterations in muscle tone. Only 21 cases have …

Objective: Sepiapterin reductase deficiency (SRD) is an under‐recognized levodopa‐responsive
disorder. We describe clinical, biochemical, and molecular findings in a cohort of …

Objective: To characterize pathologic changes in the cerebral cortex of patients with multiple
sclerosis (MS) and progressive multifocal leukoencephalopathy (PML). Methods: Autopsy …