Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction

We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in six affected individuals in three generations. Disease onset was usually in the fifth decade, but was earlier in the youngest generation. Early symptoms consisted of myoclonus in...

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Bibliographic Details
Published in:Movement disorders 2002-05, Vol.17 (3), p.482-487
Main Authors: Nijssen, Peter C.G., Brusse, Esther, Leyten, Antonius C.M., Martin, J.J., Teepen, Johannes L.J.M., Roos, Raymund A.C.
Format: Article
Language:English
Subjects:
123I-IBZM SPECT
Adult
autosomal dominant
Biological and medical sciences
Corpus Striatum - pathology
Corpus Striatum - ultrastructure
Errors of metabolism
Female
Genes, Dominant
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Male
Medical sciences
Metabolic diseases
Middle Aged
myoclonus
Nerve Degeneration
neuronal ceroid lipofuscinosis
Neuronal Ceroid-Lipofuscinoses - complications
Neuronal Ceroid-Lipofuscinoses - diagnostic imaging
Neuronal Ceroid-Lipofuscinoses - genetics
Neuronal Ceroid-Lipofuscinoses - pathology
Parkinsonian Disorders - diagnostic imaging
Parkinsonian Disorders - etiology
Parkinsonian Disorders - physiopathology
parkinsonism
Pedigree
Substantia Nigra - pathology
Substantia Nigra - ultrastructure
Tomography, Emission-Computed, Single-Photon
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Description
Summary:We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in six affected individuals in three generations. Disease onset was usually in the fifth decade, but was earlier in the youngest generation. Early symptoms consisted of myoclonus in face and arms, epilepsy, auditory symptoms, cognitive decline, or depression. Parkinsonism occurred a few years after disease onset, with stooped posture, shuffling gait, bradykinesia, and mask face. Four subjects deteriorated to a state of severe handicap, with severe dementia, contractures, dysphagia, and dysarthria. Leg weakness evolved to flaccid paraparesis in two patients. Diagnosis was confirmed by brain biopsy in one patient and full autopsy in two patients. Abundant intraneuronal storage of autofluorescent material was found throughout the brain. Electron microscopy showed granular osmiophilic deposits and scarce fingerprint profiles. Striking loss of neurons in the substantia nigra pars compacta and reticulata was found. 123I‐IBZM Single photon emission computed tomography in two patients showed loss of postsynaptic D2 receptor binding in the striatum. We conclude that parkinsonism in ANCL is likely to be caused by both presynaptic nigral cell loss and postsynaptic striatal degeneration. © 2002 Movement Disorder Society.
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.10104