Positional down beating nystagmus in 50 patients: cerebellar disorders and possible anterior semicircular canalithiasis

Bertholon, P.

doi:10.1136/jnnp.72.3.366

Cited by 215 publications

(167 citation statements)

References 45 publications

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“…Our neuro-otological findings suggest, for the first time, the close relationship between positioning vertigo and DPN, and the appearance of positioning vertigo in later stage of SCA6. Both our report and previous reports indicated a high prevalence of DPN in SCA6 Tsutsumi et al 2001;Yabe et al 2003), while DPN was uncommon or variable in non-SCA6 autosomal dominant cerebellar atrophy (Yabe et al 2003), multiple system atrophy (Tsutsumi et al 2001;Bertholon et al 2002;Yabe et al 2003) and other ADCAs, particularly SCA3 (Tsutsumi et al 2001;Yabe et al 2003). In the present study, patients with positioning vertigo showed a significantly higher prevalence of DPN than patients without vertigo, suggesting that there was a close relationship between positioning vertigo and DPN.…”

Section: Neuro-otological Aspectmentioning

confidence: 66%

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

et al. 2004

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In order to clarify the clinical and genetic features of SCA6, we retrospectively analyzed 140 patients. We observed an inverse correlation between the age of onset and the length of the expanded allele, and also between the age of onset and the sum of CAG repeats in the normal and the expanded alleles. The ages of onset of four homozygous patients correlated better with the sum of CAG repeats in both alleles rather than with the expanded allele calculated from heterozygous SCA6 subjects. Clinically, unsteadiness of gait was the main initial symptom, followed by vertigo and oscillopsia, and cerebellar signs were detected in nearly 100% of the patients. In contrast, extracerebellar signs were relatively mild and infrequent. The results of neuro-otological examination performed in 22 patients suggested the purely cerebellar abnormalities of ocular movements in nature. There was a close relationship between downbeat positioning nystagmus (DPN) and positioning vertigo, which became more common in the later stage. We conclude that total number of CAG repeat-units in both alleles is a good parameter for assessment of age of onset in SCA6 including homozygous patients. In addition, clinical and neuro-otological examinations suggested that SCA6 is a disease with predominantly cerebellar dysfunction.

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Section: Neuro-otological Aspectmentioning

confidence: 66%

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

et al. 2004

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“…Purkinje cells, that are selectively involved in SCA6, are connected directly with the vestibular nucleus [20]. Previous investigations showed that Purkinje cells located mainly in the cerebellar flocculus and vermis played an important role in vVOR cancellation [2], [7], [20]. These regions are known to be severely affected in SCA6 [10].…”

Section: Discussionmentioning

confidence: 99%

“…DPN is likely to be the earliest clinical manifestations of FHM1, which may provide important clinical signs. In addition, although DPN is recognized in patients with miscellaneous cerebellar disorders [2], it may be useful for diagnosing FHM1. Acetazolamide is already known to depress the paroxysmal symptoms of FHM1 [16], [17].…”

Section: Discussionmentioning

confidence: 99%

Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family

et al. 2008

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Clinical examination and mutational analysis were carried out in three patients of a Japanese familial hemiplegic migraine (FHM) pedigree. Each affected member demonstrated a broad clinical spectrum that included hemiplegic migraine with progressive cerebellar ataxia, migraine without aura, and episodic ataxia. Despite this variability, all members exhibited marked downbeat positioning nystagmus, and magnetic resonance images (MRI) all showed cerebellar atrophy predominantly of the cerebellar vermis. All affected members had a T666M missense mutation in the protein encoded by the CACNA1A gene (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit). Although clinical features associated with the T666M CACNA1A mutation are highly variable, downbeat positioning nystagmus may be an important clinical feature of this disease.

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“…Because otoconia have mass, angular position changes affect the involved SCC as the otoconia move within the endolymphatic fluid 2) . This movement results in an increased neural firing rate of the involved inner ear and a sensory mismatch between the systems responsible for position sense and balance 2,14) . The symptomatic consequences include nausea and vertigo lasting from seconds to minutes 1,2) .…”

Section: Discussionmentioning

confidence: 99%

Efficiency of the Deep Head Hanging Maneuver for Anterior Canal Benign Paroxysmal Positional Vertigo

2012

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Abstract.[Purpose] The aim of this clinical study was to determine whether the deep head hanging maneuver (DH maneuver) is an efficacious treatment maneuver for anterior canalithiasis. [Subjects and Methods] Twenty-two adult patients were recruited. Their ages ranged from 41-63 years, with an average age of 53 years. Ten patients were male, and twelve were female. Patients were judged to be "clear" of anterior canalithiasis when there was no nystagmus or subjective vertigo elicited by diagnostic positioning at a follow-up appointment. This study method was supported by other research using the same method.[Results] The results indicated that 77.3% of the twentytwo patients were clear of anterior canalithiasis after one treatment session, with another 18.1% clear after a second treatment session. The remaining 4.5% required a third treatment session.[Conclusion] The deep head hanging maneuver was demonstrated to be a useful treatment in patients presenting with possible anterior canalithiasis. Approximately 95% of the patients were clear after one or two deep head hanging maneuver sessions.

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Positional down beating nystagmus in 50 patients: cerebellar disorders and possible anterior semicircular canalithiasis

Cited by 215 publications

References 45 publications

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family

Efficiency of the Deep Head Hanging Maneuver for Anterior Canal Benign Paroxysmal Positional Vertigo

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