The bat fauna of the Kararaô and Kararaô Novo caves in the area under the influence of the Belo Monte hydroelectric dam, in Pará, Brazil.

Brazil's large territory displays significant richness in caves with about 12 thousand caves already recorded. Nevertheless, studies on bats in these environments are extremely scarce and fragmented. This study characterized the chiropteran fauna from two sandstone caves under the influence of the Belo Monte hydroelectric dam (Belo Monte UHE) in Pará, Brazil. The Kararaô and Kararaô Novo caves are located on the same ridge, 250 m apart. Three expeditions were carried out in 2013 and 2014, with a 4- to 5-month interval in between. A total of 589 animals were caught, 246 in the Kararaô cave and 343 in the Kararaô Novo cave. Fifteen species were recorded (13 in each cave) representing 79% similarity. With the exception of Vampyrum spectrum, which is not a cave species, the remaining recorded species were mostly cave bat species. Some species seemed to use the caves seasonally, although the basis of this pattern is still unknown. The most commonly observed species were Pteronotus personatus (dominant in the Kararaô cave), P. parnellii (dominant in the Kararaô Novo cave), and Lionycteris spurrelli, which accounted for 65% of all captures recorded for the two caves. Natalus macrourus is a species recorded in the Kararaô cave that is regionally threatened with extinction. Both caves are less than 500 m from the future reservoir; however, because the Kararaô cave entry is in an area that is lower than the reservoir, it can suffer alterations that would affect its dynamics. This raises great concern about the cave's associated fauna.

The bat fauna of the Kararaô and Kararaô Novo caves in the area under the influence of the Belo Monte hydroelectric dam, in Pará, Brazil

Abstract Brazils large territory displays significant richness in caves with about 12 thousand caves already recorded. Nevertheless, studies on bats in these environments are extremely scarce and fragmented. This study characterized the chiropteran fauna from two sandstone caves under the influence of the Belo Monte hydroelectric dam (Belo Monte UHE) in Pará, Brazil. The Kararaô and Kararaô Novo caves are located on the same ridge, 250 m apart. Three expeditions were carried out in 2013 and 2014, with a 4- to 5-month interval in between. A total of 589 animals were caught, 246 in the Kararaô cave and 343 in the Kararaô Novo cave. Fifteen species were recorded (13 in each cave) representing 79% similarity. With the exception of Vampyrum spectrum, which is not a cave species, the remaining recorded species were mostly cave bat species. Some species seemed to use the caves seasonally, although the basis of this pattern is still unknown. The most commonly observed species were Pteronotus personatus (dominant in the Kararaô cave), P. parnellii (dominant in the Kararaô Novo cave), and Lionycteris spurrelli, which accounted for 65% of all captures recorded for the two caves. Natalus macrourus is a species recorded in the Kararaô cave that is regionally threatened with extinction. Both caves are less than 500 m from the future reservoir; however, because the Kararaô cave entry is in an area that is lower than the reservoir, it can suffer alterations that would affect its dynamics. This raises great concern about the caves associated fauna.

Resumo O Brasil, com sua vasta porção territorial compreende uma alta riqueza de cavernas com cerca de 12 mil já registradas. Não obstante, os estudos sobre morcegos nestes ambientes são extremamente escassos e fragmentados. Neste estudo caracterizamos a quiropterofauna de duas cavernas areníticas sob influência da Usina Hidrelétrica de Belo Monte no Pará. As cavernas Kararaô e Kararaô Novo estão localizadas na mesma escarpa separadas por 250 m uma da outra. Foram realizadas três expedições com intervalo de 4 e 5 meses nos anos de 2013 e 2014. Realizou-se 589 capturas, sendo 246 na caverna Kararaô e 343 na Kararaô Novo. Quinze espécies foram registradas das quais duas foram exclusivas de cada caverna, equivalendo a 79% de similaridade. Excetuando-se o registro de Vampyrum spectrum, uma espécie não cavernícola, todas as demais são morcegos usualmente ou preferencialmente cavernícolas. Algumas espécies parecem usar sazonalmente as cavernas embora o porquê deste padrão seja ainda desconhecido. As espécies mais comumente observadas foram Pteronotus personatus (dominante na Kararaô), P. parnellii (dominante na Kararaô Novo) e Lionycteris spurrelli que totalizaram 65% das capturas somando-se os registros das duas cavernas. Uma espécie ameaçada regionalmente de extinção, Natalus macrourus, foi registrada na Kararaô. As duas cavernas estão a menos de 500 metros do futuro reservatório da UHE Belo Monte, porém, a entrada da caverna Kararaô está em uma cota mais baixa que a do limite do reservatório, podendo sofrer alteração em sua dinâmica, denotando maior preocupação em relação a sua fauna associada.

The bat fauna of the Kararaô and Kararaô Novo caves in the area under the influence of the Belo Monte hydroelectric dam, in Pará, Brazil / A fauna de morcegos das cavernas Kararaô e Kararaô Novo na área de influência da Usina Hidrelétrica de Belo Monte, Pará

Brazil’s large territory displays significant richness in caves with about 12 thousand caves already recorded. Nevertheless, studies on bats in these environments are extremely scarce and fragmented. This study characterized the chiropteran fauna from two sandstone caves under the influence of the Belo Monte hydroelectric dam (Belo Monte UHE) in Pará, Brazil. The Kararaô and Kararaô Novo caves are located on the same ridge, 250 m apart. Three expeditions were carried out in 2013 and 2014, with a 4- to 5-month interval in between. A total of 589 animals were caught, 246 in the Kararaô cave and 343 in the Kararaô Novo cave. Fifteen species were recorded (13 in each cave) representing 79% similarity. With the exception of Vampyrum spectrum, which is not a cave species, the remaining recorded species were mostly cave bat species. Some species seemed to use the caves seasonally, although the basis of this pattern is still unknown. The most commonly observed species were Pteronotus personatus (dominant in the Kararaô cave), P. parnellii (dominant in the Kararaô Novo cave), and Lionycteris spurrelli, which accounted for 65% of all captures recorded for the two caves. Natalus macrourus is a species recorded in the Kararaô cave that is regionally threatened with extinction. Both caves are less than 500 m from the future reservoir; however, because the Kararaô cave entry is in an area that is lower than the reservoir, it can suffer alterations that would affect its dynamics. This raises great concern about the cave’s associated fauna.

O Brasil, com sua vasta porção territorial compreende uma alta riqueza de cavernas com cerca de 12 mil já registradas. Não obstante, os estudos sobre morcegos nestes ambientes são extremamente escassos e fragmentados. Neste estudo caracterizamos a quiropterofauna de duas cavernas areníticas sob influência da Usina Hidrelétrica de Belo Monte no Pará. As cavernas Kararaô e Kararaô Novo estão localizadas na mesma escarpa separadas por 250 m uma da outra. Foram realizadas três expedições com intervalo de 4 e 5 meses nos anos de 2013 e 2014. Realizou-se 589 capturas, sendo 246 na caverna Kararaô e 343 na Kararaô Novo. Quinze espécies foram registradas das quais duas foram exclusivas de cada caverna, equivalendo a 79% de similaridade. Excetuando-se o registro de Vampyrum spectrum, uma espécie não cavernícola, todas as demais são morcegos usualmente ou preferencialmente cavernícolas. Algumas espécies parecem usar sazonalmente as cavernas embora o porquê deste padrão seja ainda desconhecido. As espécies mais comumente observadas foram Pteronotus personatus (dominante na Kararaô), P. parnellii (dominante na Kararaô Novo) e Lionycteris spurrelli que totalizaram 65% das capturas somando-se os registros das duas cavernas. Uma espécie ameaçada regionalmente de extinção, Natalus macrourus, foi registrada na Kararaô. As duas cavernas estão a menos de 500 metros do futuro reservatório da UHE Belo Monte, porém, a entrada da caverna Kararaô está em uma cota mais baixa que a do limite do reservatório, podendo sofrer alteração em sua dinâmica, denotando maior preocupação em relação a sua fauna associada.

The bat fauna of the Kararaô and Kararaô Novo caves in the area under the influence of the Belo Monte hydroelectric dam, in Pará, Brazil / A fauna de morcegos das cavernas Kararaô e Kararaô Novo na área de influência da Usina Hidrelétrica de Belo Monte, Pará

Abstract Brazil’s large territory displays significant richness in caves with about 12 thousand caves already recorded. Nevertheless, studies on bats in these environments are extremely scarce and fragmented. This study characterized the chiropteran fauna from two sandstone caves under the influence of the Belo Monte hydroelectric dam (Belo Monte UHE) in Pará, Brazil. The Kararaô and Kararaô Novo caves are located on the same ridge, 250 m apart. Three expeditions were carried out in 2013 and 2014, with a 4- to 5-month interval in between. A total of 589 animals were caught, 246 in the Kararaô cave and 343 in the Kararaô Novo cave. Fifteen species were recorded (13 in each cave) representing 79% similarity. With the exception of Vampyrum spectrum, which is not a cave species, the remaining recorded species were mostly cave bat species. Some species seemed to use the caves seasonally, although the basis of this pattern is still unknown. The most commonly observed species were Pteronotus personatus (dominant in the Kararaô cave), P. parnellii (dominant in the Kararaô Novo cave), and Lionycteris spurrelli, which accounted for 65% of all captures recorded for the two caves. Natalus macrourus is a species recorded in the Kararaô cave that is regionally threatened with extinction. Both caves are less than 500 m from the future reservoir; however, because the Kararaô cave entry is in an area that is lower than the reservoir, it can suffer alterations that would affect its dynamics. This raises great concern about the cave’s associated fauna.

Resumo O Brasil, com sua vasta porção territorial compreende uma alta riqueza de cavernas com cerca de 12 mil já registradas. Não obstante, os estudos sobre morcegos nestes ambientes são extremamente escassos e fragmentados. Neste estudo caracterizamos a quiropterofauna de duas cavernas areníticas sob influência da Usina Hidrelétrica de Belo Monte no Pará. As cavernas Kararaô e Kararaô Novo estão localizadas na mesma escarpa separadas por 250 m uma da outra. Foram realizadas três expedições com intervalo de 4 e 5 meses nos anos de 2013 e 2014. Realizou-se 589 capturas, sendo 246 na caverna Kararaô e 343 na Kararaô Novo. Quinze espécies foram registradas das quais duas foram exclusivas de cada caverna, equivalendo a 79% de similaridade. Excetuando-se o registro de Vampyrum spectrum, uma espécie não cavernícola, todas as demais são morcegos usualmente ou preferencialmente cavernícolas. Algumas espécies parecem usar sazonalmente as cavernas embora o porquê deste padrão seja ainda desconhecido. As espécies mais comumente observadas foram Pteronotus personatus (dominante na Kararaô), P. parnellii (dominante na Kararaô Novo) e Lionycteris spurrelli que totalizaram 65% das capturas somando-se os registros das duas cavernas. Uma espécie ameaçada regionalmente de extinção, Natalus macrourus, foi registrada na Kararaô. As duas cavernas estão a menos de 500 metros do futuro reservatório da UHE Belo Monte, porém, a entrada da caverna Kararaô está em uma cota mais baixa que a do limite do reservatório, podendo sofrer alteração em sua dinâmica, denotando maior preocupação em relação a sua fauna associada.

Snakebites in southwestern Goiás State, Brazil

The present study evaluated snakebite cases recorded by the Southwest II Regional Health Bureau [Regional de Saúde Sudoeste II], Goiás State, Brazil. The following data were analyzed: accident period; patient's age and gender; bite site; envenomation severity; and time elapsed between the bite and medical treatment. We evaluated 211 cases recorded between January 2002 and December 2005, which resulted in an incidence coefficient of 32.4/100,000 inhabitants. Most accidents were due to the bite of snakes from the Bothrops genus (78.2 percent). The months between January and April had a larger number of accidents (93 percent-44.1 percent), although no significant differences were observed. Only one death occurred, resulting in a mortality rate of 0.5 percent. The lower limbs were the most frequently affected (66.3 percent). The majority of the victims were male (75.1 percent). The age group of most of the patients was from 21 to 30 years (20.8 percent). The accidents were classified as mild, moderate and severe, representing 44.9 percent, 47.6 percent and 7.5 percent of the cases, respectively. The time elapsed between the accident and medical treatment was less than 3h in most of the cases (80.7 percent), reflecting the high frequency of mild and moderate accidents (92.5 percent) as well as the large number of healed patients.

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.

X-linked Charcot-Marie-Tooth disease is the second most common variant of CMT. CMTX1 is caused by mutations in the GJB1 gene encoding for connexin 32. We describe an Italian family with an intermediate CMTX phenotype with late onset. Mutation screening of the GJB1 gene revealed a 9-bp duplication leading to the insertion of three aminoacids (Thr-Val-Phe) between the end of the second extracellular domain and the beginning of the fourth transmembrane domain. This is the third in-frame insertion in the GJB1 gene identified so far and, like the previous ones, it consists in the duplication of the flanking sequence which is repeated in tandem in the wild-type gene.

Friedreich's ataxia: clinical heterogeneity in two sisters.

Diagnostic evaluation of two sisters affected by ataxia, with similar age of onset, revealed a characteristic trinucleotide expansion in the Friedreich's ataxia (FRDA) locus and two different phenotypic presentations. At onset the elder sister had retained deep tendon reflexes (FARR), while the younger sister presented classic FRDA. The GAA expansion in the patients' alleles proved to be similar in both siblings, ruling out that age at onset and clinical heterogeneity could be due to different FRDA mutations. On the whole, clinical and genetic data on these patients confirmed that FARR is a variant phenotype of FRDA.

Prevalence of inherited ataxias in the province of Padua, Italy.

Few population studies are available on epidemiological indexes of hereditary ataxias. An investigation on the prevalence rate of these movement disorders is in progress for the Veneto region, the main area of northeast Italy with a population of 4,490,586 inhabitants. The first results of this epidemiological survey concern the province of Padua, which numbers 845,203 residents (January 1, 2002). The prevalence rate of inherited ataxias has been estimated at 93.3 cases per million inhabitants. The most common types appeared to be the autosomal dominant forms, namely spinocerebellar ataxia type 1 and 2, with a prevalence of 24 per 1,000,000. In the same population, with a prevalence rate of 6 per 1,000,000, Friedreich's ataxia was defined as the prominent recessive autosomal form. There were very rare cases of ataxia telangiectasia, ataxia with vitamin E deficiency and cerebellar ataxia with congenital muscular dystrophy, a recently identified autosomal recessive disease.

Reproductive patterns and feeding habits of three nectarivorous bats (Phyllostomidae: Glossophaginae) from the Brazilian Cerrado.

The reproductive patterns and feeding habits of three sympatric nectarivorous bats, Glossophaga soricina, Anoura caudifera, and A. geoffroyi were studied in the Pousada das Araras Natural Reserve, located in Central Brazil. The bats were captured with mist nets from August 2000 to July 2001. Reproductive condition was determined by external analyses of the specimens and feeding habits from fecal samples. Glossophaga soricina was the most abundant species (65%), followed by A. geoffroyi (30%) and A. caudifera (5%). Significant differences were observed in the sex-ratio of the two more abundant species. Anoura geoffroyi showed a monoestrous pattern; its reproductive peaks occurred between the end of the dry season and the beginning of the rain season. A seasonal bimodal pattern was recorded for G. soricina, with pregnant specimens showing one peak observed in the dry season and another in the middle of the rainy season. The reproductive pattern of A. caudifera could not be satisfactorily defined because of the small sample size. However, this species apparently has a reproductive cycle similar to that of G. soricina. The patterns observed in this study seem to be related with the climate in the Brazilian savanna (Cerrado), with two well-defined seasons (dry and wet). By adjusting the parturition close to or in the rain season the three species could be favoring a greates survival rate for the offspring, since the critical lactation period would then occur in a time of maximum food availability. The three bat species showed a generalist diet, consuming fruits, pollennectar, and arthropods. Significant differences were observed in the diet of G. soricina: fruits and arthropods predominated in the dry season and pulp (fruits) in the rainy season. Males and females of this species ate the same items in similar proportions. Although A. geoffroyi has not showed a preference for a specific item, consumption of fruits and arthropods was generally greater than that of pollen.

Reproductive patterns and feeding habits of three nectarivorous bats (Phyllostomidae: Glossophaginae) from the Brazilian Cerrado

The reproductive patterns and feeding habits of three sympatric nectarivorous bats, Glossophaga soricina, Anoura caudifera, and A. geoffroyi were studied in the Pousada das Araras Natural Reserve, located in Central Brazil. The bats were captured with mist nets from August 2000 to July 2001. Reproductive condition was determined by external analyses of the specimens and feeding habits from fecal samples. Glossophaga soricina was the most abundant species (65%), followed by A. geoffroyi (30%) and A. caudifera (5%). Significant differences were observed in the sex-ratio of the two more abundant species. Anoura geoffroyi showed a monoestrous pattern; its reproductive peaks occurred between the end of the dry season and the beginning of the rain season. A seasonal bimodal pattern was recorded for G. soricina, with pregnant specimens showing one peak observed in the dry season and another in the middle of the rainy season. The reproductive pattern of A. caudifera could not be satisfactorily defined because of the small sample size. However, this species apparently has a reproductive cycle similar to that of G. soricina. The patterns observed in this study seem to be related with the climate in the Brazilian savanna (Cerrado), with two well-defined seasons (dry and wet). By adjusting the parturition close to or in the rain season the three species could be favoring a greates survival rate for the offspring, since the critical lactation period would then occur in a time of maximum food availability. The three bat species showed a generalist diet, consuming fruits, pollen-nectar, and arthropods. Significant differences were observed in the diet of G. soricina: fruits and arthropods predominated in the dry season and pulp (fruits) in the rainy season. Males and females of this species ate the same items in similar proportions. Although A. geoffroyi has not showed a preference for a specific item, consumption of fruits and arthropods was generally greater than that of pollen.

Os padrões reprodutivos e alimentares de três espécies simpátricas de morcegos nectarívoros, Glossophaga soricina, Anoura caudifera e A. geoffroyi, foram estudados na Reserva Natural Pousada das Araras no Brasil Central. Os morcegos foram capturados mensalmente durante um ano (agosto de 2000 a julho de 2001), com redes de neblina. Os estágios reprodutivos foram inferidos por intermédio de análises externas dos animais e a dieta, por intermédio da coleta de fezes dos animais. Glossophaga soricina foi a espécie mais abundante (65%), seguida por A. geoffroyi (30%) e A. caudifera (5%). Foram observadas diferenças significativas na razão sexual das duas espécies mais abundantes. Anoura geoffroyi apresentou um padrão monoéstrico de reprodução com o pico reprodutivo ocorrendo entre o final da estação seca e o início da estação chuvosa. Um padrão poliéstrico bimodal foi identificado para G. soricina, com um pico de fêmeas grávidas observado no final da estação seca e outro na metade da estação chuvosa. O período reprodutivo de A. caudifera não pôde ser definido satisfatoriamente em função do pequeno tamanho da amostra. Contudo, essa espécie apresentou aparentemente um ciclo similar a G. soricina. Os padrões observados neste estudo parecem estar relacionados à sazonalidade climática do Cerrado, que apresenta duas estações bem definidas (seca e chuvosa). As três espécies, ajustando os picos de nascimentos para a estação chuvosa, poderiam garantir maior sucesso de sobrevivência dos filhotes, visto que o período crítico da lactação estaria ocorrendo numa época de máxima oferta de alimentos. Os morcegos estudados apresentaram dieta generalista, consumindo frutos, pólen-néctar e artrópodes. Ocorreu diferença significativa na dieta de G. soricina, em que frutos e artrópodes foram os itens predominantes na estação seca, enquanto frutos (polpa) predominou na estação chuvosa. Machos e fêmeas dessa espécie comeram os mesmos itens numa proporção semelhante. Embora A. geoffroyi não tenha tido preferência por determinado item específico, frutos e artrópodes foram mais consumidos do que pólen.

Reproductive patterns and feeding habits of three nectarivorous bats (Phyllostomidae: Glossophaginae) from the Brazilian Cerrado

The reproductive patterns and feeding habits of three sympatric nectarivorous bats, Glossophaga soricina, Anoura caudifera, and A. geoffroyi were studied in the Pousada das Araras Natural Reserve, located in Central Brazil. The bats were captured with mist nets from August 2000 to July 2001. Reproductive condition was determined by external analyses of the specimens and feeding habits from fecal samples. Glossophaga soricina was the most abundant species (65 percent), followed by A. geoffroyi (30 percent) and A. caudifera (5 percent). Significant differences were observed in the sex-ratio of the two more abundant species. Anoura geoffroyi showed a monoestrous pattern; its reproductive peaks occurred between the end of the dry season and the beginning of the rain season. A seasonal bimodal pattern was recorded for G. soricina, with pregnant specimens showing one peak observed in the dry season and another in the middle of the rainy season. The reproductive pattern of A. caudifera could not be satisfactorily defined because of the small sample size. However, this species apparently has a reproductive cycle similar to that of G. soricina. The patterns observed in this study seem to be related with the climate in the Brazilian savanna (Cerrado), with two well-defined seasons (dry and wet). By adjusting the parturition close to or in the rain season the three species could be favoring a greates survival rate for the offspring, since the critical lactation period would then occur in a time of maximum food availability. The three bat species showed a generalist diet, consuming fruits, pollen-nectar, and arthropods. Significant differences were observed in the diet of G. soricina: fruits and arthropods predominated in the dry season and pulp (fruits) in the rainy season. Males and females of this species ate the same items in similar proportions. Although A. geoffroyi has not showed a preference for a specific item, consumption of fruits and arthropods was generally greater than that of pollen

Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.

It has been suggested that a genetic factor(s) or a familial predisposition may contribute to the clinical manifestations of disc herniation; moreover, no genetic linkage between spinal disc herniation and spastic paraplegia has ever been described. A family with consanguineous parents and four of eight sibs affected by multiple disc herniations and spastic paraplegia was clinically and genetically analysed. Surgery caused partial improvement in all of them. After the exclusion of type II collagen and vitamin D receptor genes and the recessive loci for HSPs, a genome wide search was performed with about 500 fluorescent markers. Positive lod score values were obtained for chromosome 6q22.31-q24.1, with evidence of three homozygous intervals. The maximum multipoint lod score of 3.28 was obtained in only one interval, between markers D6S1699 and D6S314. On the whole, a susceptibility locus for disc herniation and autosomal recessive spastic paraplegia was found on chromosome 6q23.3-q24.1. This is the first time that disc herniation and the associated neurological syndrome has been linked to a human chromosomal region.

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

Charcot-Marie-Tooth neuropathy type 1 (CMT1), the most common hereditary neurological disorder in humans, is characterized by clinical and genetic heterogeneity. It is caused mainly by a 1.5 Mb duplication in 17p11.2, but also by mutations in the myelin genes PMP22 (peripheral myelin protein 22), MPZ (myelin protein zero), Cx32 (connexin 32; also called GJB1), and EGR2 (early growth response 2). In this study, we have screened 172 index cases of Italian families in which there was at least one subject with a CMT1 diagnosis for the duplication on 17p11.2 and mutations in these genes. Among 170 informative unrelated patients, the overall duplication frequency was 57.6%. A difference could be observed between the duplication frequency in familial cases (71.6%) and that observed in non-familial cases (36.8%). Among the non-duplicated patients, 12 were mutated in Cx32, four in MPZ, two in PMP22, and none in the EGR2. In the non-duplicated cases, the overall point mutation frequency for these genes was 25.0%. We describe the mutations identified, and consider possible genotype-phenotype correlation.

Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype.

Cerebellar hypoplasia may, at neuroimaging studies, be found in association with congenital muscular dystrophy (CMD), although it is an extremely rare occurrence. We here report on three CMD patients who underwent a longitudinal evaluation of clinical and neuroimaging features for a mean period of 18 years. Case 1, a 22-year-old woman, and cases 2 and 3, brothers aged 26 and 20 years, respectively, had presented a mild to moderate muscular weakness and increased serum creatine kinase (CK) levels since birth. All cases were diagnosed in the first years of life, with identification of evident dystrophic changes at muscle biopsy and moderate to severe cerebellar hypoplasia at brain computed tomography (CT) scan. Subsequently, all the patients underwent a second muscle biopsy, with immunostaining and immunoblot analysis, which showed normal values for merosin, dystrophin and dystrophin-related proteins. During the longitudinal study, the patients underwent repeated neurological and psychiatric examinations, serum CK controls, intellectual ability assessments and neuroimaging evaluations (CT and/or magnetic resonance imaging (MRI)). In all cases, these investigations indicated a mild to moderate deficit in the proximal muscles and a clear-cut cerebellar syndrome which, it was assumed, had been present since the first years. The patients also presented some intellectual difficulties, with an IQ of 0.69 in case 1, 0.83 in case 2 and 0.61 in case 3. The clinical course of all the patients was static, and all symptoms of the combined muscle and brain involvement persisted. Nor were any changes in the cerebellar hypoplasia observed at repeat MRIs. Findings obtained by us on the longitudinal study and a review of the literature indicate that cerebellar hypoplasia and merosin-positive CMD constitute a particular clinical phenotype, mainly characterized by an ataxic syndrome associated with a non-severe muscular involvement and a possible mild intellectual impairment.

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

Hereditary spastic paraplegias (HSPs), a group of neurodegenerative disorders that cause progressive spasticity of the lower limbs, are characterized by clinical and genetic heterogeneity. To date, three loci for autosomal recessive HSP have been mapped on chromosomes 8p, 16q, and 15q. After exclusion of linkage at these loci, we performed a genomewide search in a consanguineous Italian family with autosomal recessive HSP complicated by mild mental retardation and distal motor neuropathy. Using homozygosity mapping, we obtained positive LOD scores for markers on chromosome region 3q27-q28, with a maximum multipoint LOD score of 3.9 for marker D3S1601. Haplotype analysis allowed us to identify a homozygous region (4.5 cM), flanked by markers D3S1580 and D3S3669, that cosegregates with the disease. These data strongly support the presence, on chromosome 3q27-28, of a new locus for complicated recessive spastic paraplegia, which we have named "SPG14."

A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. Online.

In man there are 39 homeobox genes of the HOX family in four loci, HOXA, HOXB, HOXC and HOXD on chromosomes 7, 17, 12, and 2. We discovered the existence of two major alleles, termed a and b, of gene HOXB1. They differ at a specific position in the 5' portion of the coding region. Sequencing the two alleles revealed that the allele HOXB1A, contains two copies of the 9bp sequence 5'ACAGCGCCC3', starting at position 65 of the coding region, whereas the allele HOXB1b contains three copies of this sequence (Fig. 1). As a consequence, the allele HOXB1b encodes a homeoprotein containing two copies of the tripeptide HisSerAla, starting at amino acid residue 25, which is present in only one copy in allele HOXB1a. We analyzed 250 individuals and found that the allelic frequencies of HOXB1a and HOXB1b were 78.8% and 21.2%. The murine homologue contains only one copy of the 9bp repeat (Fig. 1). 7 mouse strains, namely 129, BALB/c, C57BL/6, C57BL/10, CAST/Ei, C3H and SPRET/Ei, are homozygous for this allele. The allele present in gibbon and rhesus monkey appears to be identical to the human HOXB1b (Fig. 1).