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Pendular nystagmus in hypomyelinating leukodystrophy. 2013

R Bassani, and D Pareyson, and L D'Incerti, and D Di Bella, and F Taroni, and E Salsano
Department of Neurological Sciences, Ospedale "G. Salvini", via Forlanini 121, Garbagnate Milanese, Italy; Oto-neurology Service, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milano, Italy. Electronic address: rdbass@libero.it.

We report the case of a 49-year old woman affected by hypomyelinating leukodystrophy. She presented with typical pendular nystagmus that was analyzed with video-oculography which is provided in the supplementary material of the report. The pendular nystagmus was accompanied by upper limb ataxia on the index-to-nose test. The video was partly recorded with a slow-motion technique in order to better demonstrate the ataxia and the pendular nystagmus. The brain MRI demonstrated a characteristic pattern of hypomyelination. Pendular nystagmus is a key clinical sign that contributes to the diagnosis of CNS hypomyelination when a leukodystrophic pattern is observed on brain MRI.

UI MeSH Term Description Entries
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009759 Nystagmus, Pathologic Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272) Convergence Nystagmus,Horizontal Nystagmus,Jerk Nystagmus,Pendular Nystagmus,Periodic Alternating Nystagmus,Rotary Nystagmus,See-Saw Nystagmus,Vertical Nystagmus,Conjugate Nystagmus,Dissociated Nystagmus,Fatigable Positional Nystagmus,Multidirectional Nystagmus,Non-Fatigable Positional Nystagmus,Permanent Nystagmus,Rebound Nystagmus,Retraction Nystagmus,Rotational Nystagmus,Spontaneous Ocular Nystagmus,Symptomatic Nystagmus,Temporary Nystagmus,Unidirectional Nystagmus,Non Fatigable Positional Nystagmus,Nystagmus, Conjugate,Nystagmus, Convergence,Nystagmus, Dissociated,Nystagmus, Fatigable Positional,Nystagmus, Horizontal,Nystagmus, Jerk,Nystagmus, Multidirectional,Nystagmus, Non-Fatigable Positional,Nystagmus, Pendular,Nystagmus, Periodic Alternating,Nystagmus, Permanent,Nystagmus, Rebound,Nystagmus, Retraction,Nystagmus, Rotary,Nystagmus, Rotational,Nystagmus, See-Saw,Nystagmus, Spontaneous Ocular,Nystagmus, Symptomatic,Nystagmus, Temporary,Nystagmus, Unidirectional,Nystagmus, Vertical,Ocular Nystagmus, Spontaneous,Pathologic Nystagmus,Positional Nystagmus, Non-Fatigable,See Saw Nystagmus
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014741 Video Recording The storing or preserving of video signals to be played back later via a transmitter or receiver. Audiovisual Recording,Videorecording,Audiovisual Recordings,Recording, Audiovisual,Recording, Video,Recordings, Audiovisual,Recordings, Video,Video Recordings,Videorecordings
D015419 Spastic Paraplegia, Hereditary A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8) Hereditary Spastic Paraplegia,X-Linked, Spastic Paraplegia, Hereditary,Autosomal Dominant Hereditary Spastic Paraplegia,Autosomal Dominant Spastic Paraplegia Hereditary,Autosomal Recessive Hereditary Spastic Paraplegia,Autosomal Recessive Spastic Paraplegia, Hereditary,CMT with Pyramidal Features,Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant,HMSN 5,HMSN Type V,HMSN V,HMSN V (Hereditary Motor and Sensory Neuropathy Type V),Hereditary Autosomal Dominant Spastic Paraplegia,Hereditary Autosomal Recessive Spastic Paraplegia,Hereditary Motor And Sensory Neuropathy V,Hereditary Motor and Sensory Neuropathy 5,Hereditary Motor-Sensory Neuropathy with Pyramidal Signs,Hereditary Spastic Paraplegia, Autosomal Recessive,Hereditary X-Linked Recessive Spastic Paraplegia,Hereditary, Spastic Paraplegia, Autosomal Dominant,Hereditary, Spastic Paraplegia, X-Linked Recessive,Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia,Paraplegia, Spastic, Hereditary,Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant,Spastic Paraplegia 2,Spastic Paraplegia Type 2,Spastic Paraplegia, Autosomal Dominant, Hereditary,Spastic Paraplegia, Autosomal Recessive, Hereditary,Spastic Paraplegia, Hereditary, Autosomal Dominant,Spastic Paraplegia, Hereditary, Autosomal Recessive,Spastic Paraplegia, Hereditary, X-Linked Recessive,Spastic Paraplegia, X-Linked Recessive, Hereditary,Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy,Type V Hereditary Motor and Sensory Neuropathy,X Linked Recessive Hereditary Spastic Paraplegia,X-linked Recessive Hereditary Spastic Paraplegia,Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant,Hereditary Motor Sensory Neuropathy with Pyramidal Signs,Hereditary Spastic Paraplegias,Hereditary X Linked Recessive Spastic Paraplegia,Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia,Paraplegia, Hereditary Spastic,Paraplegias, Hereditary Spastic,Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy,Spastic Paraplegias, Hereditary,Type V, HMSN

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