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Hereditary Neuronal Intranuclear Inclusion Disease With Autonomic Failure and Cerebellar Degeneration
Raffaella Zannolli, MD;
Sid Gilman, MD, FRCP;
Simone Rossi, MD;
Nila Volpi, MD;
Andrea Bernini, MD;
Paolo Galluzzi, MD;
Daniela Galimberti, MD;
Lucia Pucci, PhD;
Alfonso D'Ambrosio, MD;
Guido Morgese, MD;
Fabio Giannini, MD
Arch Neurol. 2002;59:1319-1326.
Background Neuronal intranuclear inclusion disease (NIID), a multiple-system degeneration,
occurs usually as a sporadic disorder with onset in childhood. The disease
has been found in monozygotic twins and in siblings. In 2 previously described
families, the disorder has affected 2 generations.
Objective To investigate the clinical, anatomical, and electrophysiological characteristics
of NIID that affect the central nervous system and the central and peripheral
components of the autonomic nervous system in 2 successive generations of
a family.
Design Case report.
Setting Tertiary care hospital.
Patients A 53-year old woman and her sons, aged 28 and 25 years. Symptoms began
in childhood in 2 of the 3 cases, and consisted of urinary and fecal incontinence,
erectile dysfunction in the men, and recurrent orthostatic hypotension.
Methods We used results of clinical neurological evaluations; cranial magnetic
resonance imaging; skeletal muscle and sphincter electromyography (EMG); peripheral
nerve conduction and bulbocavernosus reflex studies; autonomic function tests;
brainstem, visual, somatosensory, and motor evoked potentials; auditory and
vestibular testing; metabolic and molecular genetic testing; and muscle and
rectal biopsy with immunohistochemistry.
Results We found variable degrees of ocular dysmetria in 2 cases, ataxic dysarthria
and limb ataxia in 1, and hyperreflexia in 2. Magnetic resonance imaging revealed
cerebellar atrophy in all 3 cases and diffuse cerebral cortical atrophy in
1. Results of peripheral nerve conduction studies were normal. Sphincter EMG
findings were abnormal in 2 of the 3 cases, and results of autonomic function
tests were abnormal in the same 2. The EMG in 1 case revealed a chronic neurogenic
pattern in the distal limb muscles. Metabolic and molecular genetic testing
revealed no abnormal findings. Results of the muscle biopsy were negative,
but results of the rectal biopsy revealed eosinophilic ubiquitinated intranuclear
inclusions in neurons.
Conclusion Transmission of NIID in 2 generations presenting with autonomic failure
and cerebellar ataxia was hereditary.
From the Department of Pediatrics, Obstetrics, and Reproductive Medicine,
Section of Pediatrics (Drs Zannolli, Galimberti, Pucci, D'Ambrosio, and Morgese),
Department of Surgery (Dr Bernini), and Department of Neuroscience, Section
of Neurology (Drs Rossi and Giannini), Policlinico Le Scotte, and the Department
of Anatomical and Biomedical Sciences (Dr Volpi), University of Siena, and
the Neuroradiology Unit, Azienda Ospedaliera Senese, Policlinico Le Scotte
(Dr Galluzzi), Siena, Italy; and the Department of Neurology, University of
Michigan, Ann Arbor (Dr Gilman).
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