Cases reported "Cerebellar Ataxia"

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1/37. Episodic ataxia: a case report and review of literature.

    This report describes the clinical features of a 29 year female presenting with a 3 years history of episodes of cerebellar ataxia, dysarthria and nystagmus lasting 3-5 days, recurring almost every month. sleep disturbance and buzzing in ears were noted 3-4 days before each episode. No other precipitant factor was present. family history was negative. She was diagnosed as a case of episodic ataxia type-2 and was successfully treated with acetazolamide, a carbonic anhydrase inhibitor. She was asymptomatic at 2 year followup.
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2/37. A patient homozygous for the SCA6 gene with retinitis pigmentosa.

    The present authors studied a 55-year-old-patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. retinitis pigmentosa (RP), as well as cerebellar ataxia and vertical antidirectional nystagmus, were detected. The subject's parents were first cousins, and two of his three male cousins, whose parents were also first cousins, had RP without ataxia or nystagmus. The numbers of CAG repeats in the expanded alleles of the SCA6 gene found by molecular analysis were 21 and 21. The genetic results were negative for SCA1, SCA2, SCA3, SCA7 and dentatorubral pallidoluysian atrophy. The retinal degeneration in this patient is most likely to be secondary to a genetic disorder of autosomal or X-linked recessive inheritance rather than SCA6. Other reported cases of patients homozygous for the SCA6 gene are also reviewed.
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keywords = nystagmus
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3/37. Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family.

    We describe an Italian family with familial hemiplegic migraine (FHM), subtle cerebellar signs and probable linkage to chromosome 1. FHM is genetically heterogeneous; in about 50% of families it is caused by mutations within the CACNA1A gene on chromosome 19. Linkage to 1q31 and 1g21-23 has also been established. Other families do not link either to chromosome 19 or 1. Chromosome 19-linked FHM may display nystagmus and cerebellar ataxia. Affected family members were neurologically examined; linkage analysis was performed with markers for chromosomes 19p13, 1q21-23, and 1q32. Five family members had hemiplegic migraine, and 3 displayed additional cerebellar signs (scanning speech and nystagmus). In 1 patient, episodes of hemiplegic migraine triggered by mild head trauma. epilepsy and mental retardation were also found in 1 affected relative each. Lod scores for linkage to 19p13 were negative, while the maximum two-point lod score was 1.81 to 1q21-23. This family with FHM and associated subtle cerebellar signs, epilepsy and mental retardation showed probable linkage to 1q21-23.
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4/37. Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.

    We report on an 11-year-old boy with familial juvenile nephronophthisis type I associated with cerebellar ataxia and nystagmus, but not with ocular motor apraxia. An MRI revealed hypoplasia of the brainstem and vermis, and an enlargement of the fourth ventricle. A molecular genetic analysis demonstrated a homozygous deletion including the NPHP1 gene. These findings suggest that NPHP1 may play an important role in the normal development of the brainstem and the cerebellum as well as renal tissue.
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5/37. A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.

    We report a Japanese family with acetazolamide-responsive episodic ataxia. The proband was a 41-year-old woman with interictal nystagmus. She experienced recurrent attacks of loss of equilibrium and loss of coordination of the extremities accompanied by dysarthria and nausea beginning at about 10 years old. These episodes usually lasted for several hours two or three times a week. Direct sequence of CACNA1A demonstrated a novel insertion mutation in the patient and her father. This mutation is estimated to cause early stop of the gene transcription, producing a truncated protein. This is the first report of episodic ataxia type 2 of which the mutation was identified in a Japanese family.
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keywords = nystagmus
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6/37. Fisher's syndrome without total ophthalmoplegia.

    A 16-year-old boy with acute ophthalmoplegic polyneuritis (Fisher's syndrome) exhibited bilateral internal ophthalmoplegia, but only lateral rectus and superior oblique eye movements were affected. Gaze-evoked nystagmus was also present on left lateral gaze. Pupillary reflex recovered 7 weeks after onset, but neither cholinergic supersensitivity nor light-near dissociation were present during the recovery process. This is the first such case to be reported in which the site of the lesion responsible for the pupillomotor impairment was the Edinger-Westphal nucleus.
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7/37. Progressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors.

    Palatal tremor has been subdivided into essential (EPT) and symptomatic palatal tremor (SPT). A subgroup of the SPT form has a syndrome of progressive ataxia and palatal tremor (PAPT). Published details of cases of PAPT are sparse and the disorder appears heterogeneous. We present clinical and MRI features of six patients with sporadic PAPT who attended The University health Network between 1991 and 2002. eye movements were recorded using a magnetic search coil technique. We review previously reported cases of PAPT from the English language literature and relate this disorder to EPT and SPT. PAPT may be divided into sporadic and familial forms. We identified 22 other prior reported cases of sporadic PAPT. Sporadic PAPT is a subtype of SPT in which progressive cerebellar degeneration is the most symptomatic feature. A combination of vertical nystagmus and palatal tremor was found in one of our cases. Internuclear ophthalmoplegia, a new finding, was present in two of our patients and indicated additional brainstem dysfunction. Inferior olivary high signal abnormalities were present on MRI in all of our cases. The cause of sporadic PAPT remains uncertain. In some previous reports of sporadic PAPT, the combination of brainstem or pontine atrophy, parkinsonism, autonomic dysfunction or corticospinal tract abnormalities suggests a diagnosis of multiple system atrophy, although pathological verification is lacking. Familial PAPT is associated with marked brainstem and cervical cord atrophy with corticospinal tract findings, but the typical olivary MRI abnormalities have not been reported. A substitution in the glial fibrillary acidic protein (GFAP) gene has been described in a family with PAPT, raising the possibility of Alexander's disease. One other familial syndrome of PAPT, termed 'dark dentate disease', has also been reported. PAPT is a subgroup of SPT in which ataxia progresses and is not usually the result of a monophasic illness. Eye movement abnormalities suggest a disorder of both the cerebellum and brainstem. Familial PAPT differs from sporadic PAPT in having marked atrophy of cervical cord and brainstem with corticospinal signs but without hypertrophic olivary appearance on MRI.
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8/37. Cerebellar atrophy in a patient with anorexia nervosa.

    Reversible cerebral atrophy (pseudoatrophy) is observable in patients with anorexia nervosa. However, it is extremely rare to see marked cerebellar atrophy. OBJECTIVES: We report on a patient who developed cerebellar atrophy after the severe deterioration of cardiac and respiratory functions resulting from undernutririon. RESULTS: A 30-year-old Japanese woman was admitted to the Wakayama Medical University Hospital (Wakayama, japan) because of unsteadiness of gait. She had a 7-year history of anorexia nervosa and had been admitted to an emergency hospital because of asthenic shock resulting from severe undernutrition at the age of 28. On admission to our hospital, neurologic examination revealed dysarthria and cerebellar ataxia of the trunk and lower extremities without nystagmus. A brain magnetic resonance imaging scan demonstrated marked atrophy of the cerebellum. DISCUSSION: Because her cerebellar ataxia appeared during severe deterioration of her general condition, and there has been no subsequent progression, it is possible that her cerebellar atrophy was induced by undernutrition.
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9/37. Familial positional downbeat nystagmus and cerebellar ataxia: clinical and pathologic findings.

    A family with progressive cerebellar ataxia is reported. The earlier signs of cerebellar dysfunction was positional downbeat nystagmus (PDBN). An autopsy of one member with PDBN, who died early in the disease of unrelated causes, showed loss of purkinje cells primarily in the nodulus.
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10/37. Non-progressive congenital ataxia with cerebellar hypoplasia in three families.

    AIM: Non-progressive ataxias with cerebellar hypoplasia are a rarely seen heterogeneous group of hereditary cerebellar ataxias. METHOD: Three sib pairs from three different families with this entity have been reviewed, and differential diagnosis has been discussed. RESULTS: In two of the families, the parents were consanguineous. walking was delayed in all the children. Truncal and extremity ataxia were then noticed. Ataxia was severe in one child, moderate in two children, and mild in the remaining three. Neurological examination revealed horizontal, horizonto-rotatory and/or vertical nystagmus, variable degrees of mental retardation, and pyramidal signs besides truncal and extremity ataxia. In all the cases, cerebellar hemisphere and vermis hypoplasia were detected in MRI. During the follow-up period, a gradual clinical improvement was achieved in all the children. CONCLUSION: Inheritance should be considered as autosomal recessive in some of the non-progressive ataxic syndromes. Congenital non-progressive ataxias are still being investigated due to the rarity of large pedigrees for genetic studies. If further information on the aetiopathogenesis and clinical progression of childhood ataxias associated with cerebellar hypoplasia is to be acquired, a combined evaluation of metabolic screening, long-term follow-up and radiological analyses is essential.
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