Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease

Fukuhara, Nobuyoshi; Nakajima, Takashi; Sakajiri, Kenichi; Matsubara, Nae; Fujita, Motoi

doi:10.1016/0022-510x(95)00176-3

Cited by 34 publications

(35 citation statements)

References 14 publications

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“…These clinical features are similar to those of FA except for the early onset of ataxia and mental retardation. In Japan, patients with similar clinical features to ours have been reported under the disease titles of hereditary ataxia associated with hypoalbuminemia or hereditary motor and sensory neuropathy associated with cerebellar atrophy [13, 14, 15, 16]. Neuropathological study of an autopsy showed severe degeneration of the posterior column, lateral and anterior corticospinal tract, as well as the peripheral nerves and cerebellar cortex.…”

Section: Discussionmentioning

confidence: 62%

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Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental Retardation

Tachi¹,

Kozuka²,

Ohya

et al. 2000

Eur Neurol

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We present here 5 patients with hereditary cerebellar ataxia with peripheral neuropathy and mental retardation as determined by clinical, pathological, and molecular studies. The most characteristic features of this disorder, in contrast to Friedreich’s ataxia, were early onset of ataxic gait, mental retardation, and a marked atrophy of the cerebellum. Sural nerve biopsy showed a reduction of myelinated fibers. The expansion of a GAA triplet repeat within the first intron of the frataxin gene, which causes Friedreich’s ataxia, was not identified in any of the patients. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation represents a specific clinical entity that so far has only been described in Japan.

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Section: Discussionmentioning

confidence: 62%

“…In Japan, autosomal recessive cerebellar ataxia with clinical features similar to those of FA has been reported [13, 14, 15, 16]. The characteristic features are severe cerebellar atrophy and mental retardation, and hypoalbuminemia and increased total cholesterol are also observed.…”

Section: Introductionmentioning

confidence: 84%

Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental Retardation

Tachi¹,

Kozuka²,

Ohya

et al. 2000

Eur Neurol

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“…Two distinct phenotypic stages can be distinguished: at onset cerebellar ataxia and chorea are the most consistent symptoms, whereas OMA and neuropathy are usually absent; later, the predominant symptom is severe disabling neuropathy. In several families (including one of ours), the severity of the distal motor de®cit, atrophy and deformities suggested the diagnosis of hereditary sensory motor neuropathy (Uekawa et al, 1992;Fukuhara et al, 1995;Sekijima et al, 1998), which is consistent with the marked loss of small and large myelinated ®bres on nerve biopsies. The clinical course is rapidly progressive, with a mean disease duration of 11.2 years (ranging from 5 to 20), before the patients become wheelchair-bound.…”

Section: Discussionmentioning

confidence: 69%

“…AOA1 was initially described in Japanese families (Inoue et al, 1971;Aicardi et al, 1988;Uekawa et al, 1992;Kubota et al, 1995;Fukuhara et al, 1995;Hanihara et al, 1995;Sekijima et al, 1998;Tachi et al, 2000). The phenotype is characterized by early-onset cerebellar ataxia, oculomotor apraxia, neuropathy and mental retardation in most families.…”

Section: Introductionmentioning

confidence: 99%

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

Ber¹

2003

Brain

213

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SummaryAtaxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identi®ed recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identi®ed 14 patients (nine families) with ®ve different missense or truncating mutations in the aprataxin gene (W279X, A198V, D267G, W279R, IVS5+1), four of which were new. We determined the relative frequency of AOA1 which is 5%. Mutation carriers underwent detailed neurological, neuropsychological, electrophysiological, oculographic and biological examinations, as well as brain imaging. The mean age at onset was 6.8 T 4.8 years (range 2±18 years). Cerebellar ataxia with cerebellar atrophy on MRI and severe axonal sensorimotor neuropathy were present in all patients. In contrast, oculomotor apraxia (86%), hypoalbuminaemia (83%) and hypercholesterolaemia (75%) were variable. Choreic movements were frequent at onset (79%), but disappeared in the course of the disease in most cases. However, a remarkably severe and persistent choreic phenotype was associated with one of the mutations (A198V). Cognitive impairment was always present. Ocular saccade initiation was normal, but their duration was increased by the succession of multiple hypometric saccades that could clinically be confused with`slow saccades'. We emphasize the phenotypic variability over the course of the disease. Cerebellar ataxia and/or chorea predominate at onset, but later on they are often partially masked by severe neuropathy, which is the most typical symptom in young adults. The presence of chorea, sensorimotor neuropathy, oculomotor anomalies, biological abnormalities, cerebellar atrophy on MRI and absence of the Babinski sign can help to distinguish AOA1 from Friedreich's ataxia on a clinical basis. The frequency of chorea at onset suggests that this diagnosis should also be considered in children with chorea who do not carry the IT15 mutation responsible for Huntington's disease.

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“…In Japan, these patients have been recognized as having a variant form of Friedreich’s ataxia (FA) [3], and they were diagnosed with early-onset cerebellar ataxia with hypoalbuminemia [4], hereditary motor and sensory neuropathy associated with cerebellar atrophy [5] or early-onset ataxia associated with hypoalbuminemia [6]. No Japanese FA patients having GAA trinucleotide repeat expansion in the frataxin gene have been reported.…”

Section: Introductionmentioning

confidence: 99%

Purkinje Cell Loss in the Cerebellar Flocculus in Patients with Ataxia with Ocular Motor Apraxia Type 1/Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia

Sugawara

Wada²,

Okawa³

et al. 2007

Eur Neurol

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We genetically screened patients with ataxia with ocular motor apraxia type 1 (AOA1)/early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), with a Japanese variant form of Friedreich’s ataxia. Three patients were found to have a homozygous insertion mutation of the aprataxin gene (689insT). An elder sister of a patient in this series died of cerebral hemorrhage at the age of 45, and underwent autopsy. In her cerebellar cortex, the mean density of Purkinje cells in the flocculus had predominantly decreased to 6.7% of normal controls, whereas the Purkinje cells in the other areas of the cerebellar hemisphere had decreased to 78.2%. This suggests that the cerebellar flocculus is the primary affected lesion in AOA1/EAOH, which should be associated with ocular motor apraxia.

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Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease

Cited by 34 publications

References 14 publications

Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental Retardation

Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental Retardation

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

Purkinje Cell Loss in the Cerebellar Flocculus in Patients with Ataxia with Ocular Motor Apraxia Type 1/Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia

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